G117D (p.Gly117Asp) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G117D (p.Gly117Asp) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
G117D (p.Gly117Asp) variant details
- p.Gly117Asp
- TOPMed rs1411763179
- gnomAD rs1411763179
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.78
- CADD 23.10
- PolyPhen-2 0.98
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available