G32S (p.Gly32Ser) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G32S (p.Gly32Ser) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G32S (p.Gly32Ser) variant details
- p.Gly32Ser
- gnomAD rs1331987048
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.07
- CADD 13.50
- PolyPhen-2 0.05
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available