G111R (p.Gly111Arg) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G111R (p.Gly111Arg) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
G111R (p.Gly111Arg) variant details
- p.Gly111Arg
- gnomAD rs1938297552
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.72
- CADD 24.00
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available