G50C (p.Gly50Cys) variant of KRT1 (Keratin, type II cytoskeletal 1)
G50C (p.Gly50Cys) 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 0.33 / 1. The record also includes population frequency data and structural context.
G50C (p.Gly50Cys) variant details
- p.Gly50Cys
- NCI-TCGA Cosmic COSV5286
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.28
- CADD 4.21
- PolyPhen-2 0.00
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available