G27R (p.Gly27Arg) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G27R (p.Gly27Arg) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
G27R (p.Gly27Arg) variant details
- p.Gly27Arg
- gnomAD rs1240542109
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.09
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available