G89S (p.Gly89Ser) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G89S (p.Gly89Ser) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G89S (p.Gly89Ser) variant details
- p.Gly89Ser
- gnomAD rs1414229848
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.06
- CADD 20.00
- PolyPhen-2 0.04
- SIFT 0.22
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available