G114D (p.Gly114Asp) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G114D (p.Gly114Asp) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G114D (p.Gly114Asp) variant details
- p.Gly114Asp
- ExAC rs753917253
- gnomAD rs753917253
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.62
- CADD 22.70
- PolyPhen-2 0.71
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available