A126V (p.Ala126Val) variant of NLRP1 (Q9C000)
A126V (p.Ala126Val) 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 0.06 / 1. The record also includes population frequency data.
A126V (p.Ala126Val) variant details
- p.Ala126Val
- rs779228750
- ClinGen CA8327592
- NCI-TCGA Cosmic COSV5256
- cosmic curated COSV52565
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0565
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)