L40R (p.Leu40Arg) variant of VIM (Vimentin)
L40R (p.Leu40Arg) 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.
L40R (p.Leu40Arg) variant details
- p.Leu40Arg
- gnomAD 10-17229541-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.54
- MetaLR 0.35
- MetaSVM -0.63
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available