D141Y (p.Asp141Tyr) variant of KRT12 (Keratin, type I cytoskeletal 12)
D141Y (p.Asp141Tyr) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
D141Y (p.Asp141Tyr) variant details
- p.Asp141Tyr
- ExAC rs775252087
- gnomAD rs775252087
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.59
- CADD 23.70
- PolyPhen-2 0.77
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available