A36V (p.Ala36Val) variant of VCL (Vinculin)
A36V (p.Ala36Val) in VCL (Vinculin) is a missense change. Clinical records from ClinVar, EBI, 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 0.42 / 1. The record also includes published literature and structural context.
A36V (p.Ala36Val) variant details
- p.Ala36Val
- rs2136218305
- ClinGen CA377255244
- ClinVar RCV002048005
- Ensembl rs2136218305
- Uncertain significance
- Dilated cardiomyopathy 1W
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- AlphaMissense 0.85
- MetaLR 0.22
- MetaSVM -0.41
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.47
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1W)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)