P131S (p.Pro131Ser) variant of KRT6A (Keratin, type II cytoskeletal 6A)
P131S (p.Pro131Ser) in KRT6A (Keratin, type II cytoskeletal 6A) 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 0.55 / 1. The record also includes population frequency data and structural context.
P131S (p.Pro131Ser) variant details
- p.Pro131Ser
- rs1376577077
- NCI-TCGA Cosmic COSV1004
- TOPMed rs1376577077
- gnomAD rs1376577077
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.46
- CADD 25.30
- PolyPhen-2 0.96
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available