G56R (p.Gly56Arg) variant of KRT9 (Keratin, type I cytoskeletal 9)
G56R (p.Gly56Arg) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. 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.
G56R (p.Gly56Arg) variant details
- p.Gly56Arg
- TOPMed rs1782111348
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.35
- CADD 14.60
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available