A126T (p.Ala126Thr) variant of NLRP1 (Q9C000)
A126T (p.Ala126Thr) in NLRP1 (Q9C000) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data.
A126T (p.Ala126Thr) variant details
- p.Ala126Thr
- NCI-TCGA Cosmic COSV9933
- cosmic curated COSV99333
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0874
- CADD 2.81
- PolyPhen-2 0.02
- SIFT 0.57
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)