A43V (p.Ala43Val) variant of VIM (Vimentin)
A43V (p.Ala43Val) 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 and structural context.
A43V (p.Ala43Val) variant details
- p.Ala43Val
- ExAC rs758730926
- TOPMed rs758730926
- gnomAD rs758730926
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.33
- CADD 23.40
- PolyPhen-2 0.25
- SIFT 0.30
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available