R12H (p.Arg12His) variant of VIM (Vimentin)
R12H (p.Arg12His) in VIM (Vimentin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R12H (p.Arg12His) variant details
- p.Arg12His
- gnomAD 10-17229457-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.54
- MetaLR 0.76
- MetaSVM 0.66
- CADD 24.20
- PolyPhen-2 0.17
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available