G43R (p.Gly43Arg) variant of KRT9 (Keratin, type I cytoskeletal 9)
G43R (p.Gly43Arg) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G43R (p.Gly43Arg) variant details
- p.Gly43Arg
- gnomAD rs1270637236
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.30
- CADD 13.20
- PolyPhen-2 0.06
- SIFT 0.11
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available