G74R (p.Gly74Arg) variant of KRT9 (Keratin, type I cytoskeletal 9)
G74R (p.Gly74Arg) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G74R (p.Gly74Arg) variant details
- p.Gly74Arg
- TOPMed rs1188648638
- gnomAD rs1188648638
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.44
- CADD 16.50
- PolyPhen-2 0.85
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available