G97R (p.Gly97Arg) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G97R (p.Gly97Arg) 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 0.25 / 1. The record also includes population frequency data and structural context.
G97R (p.Gly97Arg) variant details
- p.Gly97Arg
- rs200254647
- NCI-TCGA Cosmic COSV5810
- ExAC rs200254647
- TOPMed rs200254647
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.33
- CADD 11.50
- PolyPhen-2 0.01
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available