R28Q (p.Arg28Gln) variant of VIM (Vimentin)
R28Q (p.Arg28Gln) in VIM (Vimentin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R28Q (p.Arg28Gln) variant details
- p.Arg28Gln
- gnomAD 10-17229505-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.20
- MetaLR 0.31
- MetaSVM -0.71
- CADD 24.30
- PolyPhen-2 0.16
- SIFT 0.21
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available