D2V (p.Asp2Val) variant of KRT12 (Keratin, type I cytoskeletal 12)
D2V (p.Asp2Val) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
D2V (p.Asp2Val) variant details
- p.Asp2Val
- ExAC rs772315405
- gnomAD rs772315405
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.21
- CADD 15.00
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available