L40V (p.Leu40Val) variant of VIM (Vimentin)
L40V (p.Leu40Val) in VIM (Vimentin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L40V (p.Leu40Val) variant details
- p.Leu40Val
- gnomAD 10-17229540-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.26
- MetaLR 0.33
- MetaSVM -0.61
- CADD 22.30
- PolyPhen-2 0.12
- SIFT 0.83
- Population evidence available
- Structural context available
- Literature evidence available