V31L (p.Val31Leu) variant of VIM (Vimentin)
V31L (p.Val31Leu) in VIM (Vimentin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
V31L (p.Val31Leu) variant details
- p.Val31Leu
- rs762644216
- ClinGen CA5426345
- ClinVar RCV004177932
- ExAC rs762644216
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.25
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available