R12L (p.Arg12Leu) variant of VIM (Vimentin)
R12L (p.Arg12Leu) in VIM (Vimentin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R12L (p.Arg12Leu) variant details
- p.Arg12Leu
- gnomAD 10-17229457-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.58
- MetaLR 0.78
- MetaSVM 0.58
- CADD 24.00
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available