A43T (p.Ala43Thr) variant of NLRP1 (Q9C000)
A43T (p.Ala43Thr) in NLRP1 (Q9C000) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- rs145709003
- ClinGen CA8327645
- cosmic curated COSV99332
- ClinVar RCV003580046
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- CADD 8.59
- PolyPhen-2 0.07
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)