G17C (p.Gly17Cys) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G17C (p.Gly17Cys) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G17C (p.Gly17Cys) variant details
- p.Gly17Cys
- gnomAD rs1402351179
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.26
- CADD 21.10
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available