G10R (p.Gly10Arg) variant of KRT1 (Keratin, type II cytoskeletal 1)
G10R (p.Gly10Arg) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G10R (p.Gly10Arg) variant details
- p.Gly10Arg
- gnomAD rs1470858408
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.24
- CADD 16.50
- PolyPhen-2 0.45
- SIFT 0.09
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available