G20C (p.Gly20Cys) variant of KRT1 (Keratin, type II cytoskeletal 1)
G20C (p.Gly20Cys) in KRT1 (Keratin, type II cytoskeletal 1) 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 0.32 / 1. The record also includes population frequency data and structural context.
G20C (p.Gly20Cys) variant details
- p.Gly20Cys
- NCI-TCGA Cosmic COSV5286
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.13
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.53
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available