G117S (p.Gly117Ser) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G117S (p.Gly117Ser) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
G117S (p.Gly117Ser) variant details
- p.Gly117Ser
- gnomAD rs1303170282
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.53
- CADD 17.40
- PolyPhen-2 0.41
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available