D117Y (p.Asp117Tyr) variant of KRT12 (Keratin, type I cytoskeletal 12)
D117Y (p.Asp117Tyr) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D117Y (p.Asp117Tyr) variant details
- p.Asp117Tyr
- ExAC rs757586930
- gnomAD rs757586930
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.18
- CADD 19.30
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available