A115T (p.Ala115Thr) variant of NLRP1 (Q9C000)
A115T (p.Ala115Thr) 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 0.08 / 1. The record also includes population frequency data.
A115T (p.Ala115Thr) variant details
- p.Ala115Thr
- rs200012608
- ClinGen CA8327597
- cosmic curated COSV52579
- ClinVar RCV002608668
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0779
- CADD 2.26
- PolyPhen-2 0.09
- SIFT 0.36
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)