A46V (p.Ala46Val) variant of VCL (Vinculin)
A46V (p.Ala46Val) in VCL (Vinculin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1W. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A46V (p.Ala46Val) variant details
- p.Ala46Val
- gnomAD rs1331916046
- Uncertain significance
- Dilated cardiomyopathy 1W
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.29
- CADD 23.30
- PolyPhen-2 0.06
- SIFT 0.19
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1W)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available