G18V (p.Gly18Val) variant of KRT9 (Keratin, type I cytoskeletal 9)
G18V (p.Gly18Val) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. 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.
G18V (p.Gly18Val) variant details
- p.Gly18Val
- TOPMed rs1162126966
- gnomAD rs1162126966
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.35
- CADD 17.20
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available