R12G (p.Arg12Gly) variant of VIM (Vimentin)
R12G (p.Arg12Gly) in VIM (Vimentin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R12G (p.Arg12Gly) variant details
- p.Arg12Gly
- gnomAD 10-17229456-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.51
- MetaLR 0.72
- MetaSVM 0.31
- CADD 24.30
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available