V68D (p.Val68Asp) variant of KRT1 (Keratin, type II cytoskeletal 1)
V68D (p.Val68Asp) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V68D (p.Val68Asp) variant details
- p.Val68Asp
- ExAC rs774379558
- gnomAD rs774379558
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.44
- AlphaMissense 0.14
- MetaLR 0.37
- MetaSVM -0.53
- CADD 22.30
- PolyPhen-2 0.08
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available