G129R (p.Gly129Arg) variant of KRT10 (Keratin, type I cytoskeletal 10)
G129R (p.Gly129Arg) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
G129R (p.Gly129Arg) variant details
- p.Gly129Arg
- gnomAD rs1329187588
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.44
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00041)