G104R (p.Gly104Arg) variant of KRT5 (Keratin, type II cytoskeletal 5)
G104R (p.Gly104Arg) in KRT5 (Keratin, type II cytoskeletal 5) 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 0.47 / 1. The record also includes population frequency data and structural context.
G104R (p.Gly104Arg) variant details
- p.Gly104Arg
- NCI-TCGA Cosmic COSV5285
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.30
- CADD 24.70
- PolyPhen-2 0.88
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available