A50T (p.Ala50Thr) variant of KRT6B (Keratin, type II cytoskeletal 6B)
A50T (p.Ala50Thr) in KRT6B (Keratin, type II cytoskeletal 6B) 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 0.24 / 1. The record also includes population frequency data and structural context.
A50T (p.Ala50Thr) variant details
- p.Ala50Thr
- rs762312695
- NCI-TCGA Cosmic COSV5288
- ExAC rs762312695
- TOPMed rs762312695
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.22
- CADD 5.09
- PolyPhen-2 0.02
- SIFT 0.38
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available