G47S (p.Gly47Ser) variant of KRT17 (Keratin, type I cytoskeletal 17)
G47S (p.Gly47Ser) in KRT17 (Keratin, type I cytoskeletal 17) 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.
G47S (p.Gly47Ser) variant details
- p.Gly47Ser
- rs1294947365
- NCI-TCGA Cosmic COSV6086
- TOPMed rs1294947365
- gnomAD rs1294947365
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.28
- CADD 13.20
- PolyPhen-2 0.01
- SIFT 0.23
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available