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1 records shown · first 60Computational Identification and Functional Analysis of Potentially Pathogenic nsSNPs in the NLRP3 Gene Linked to Alzheimer's Disease.
PMID 39167281 | DOI 10.1007/s12013-024-01465-9 · Cell biochemistry and biophysics · 2025 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs139814109 | “Among the identified nsSNPs, rs180177442 (R262L and R262P), rs201875324 (T659I), and rs139814109 (T897M) were classified as high-risk variants due to their significant deleterious impact, probable damaging effects, and association with decreased protein stability.” | 0.90 | hgvs_regex_v1 |
| gene | NLRP3 | “Computational Identification and Functional Analysis of Potentially Pathogenic nsSNPs in the NLRP3 Gene Linked to Alzheimer's Disease.” | 0.98 | hgnc_dict_v1 |
| phenotype | Alzheimer disease | “Computational Identification and Functional Analysis of Potentially Pathogenic nsSNPs in the NLRP3 Gene Linked to Alzheimer's Disease.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | rs180177442 | “Among the identified nsSNPs, rs180177442 (R262L and R262P), rs201875324 (T659I), and rs139814109 (T897M) were classified as high-risk variants due to their significant deleterious impact, probable damaging effects, and association with decreased protein stability.” | 0.90 | hgvs_regex_v1 |