V62L (p.Val62Leu) variant of VCL (Vinculin)
V62L (p.Val62Leu) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V62L (p.Val62Leu) variant details
- p.Val62Leu
- rs147809878
- ClinGen CA377259988
- ClinVar RCV001232022
- 1000Genomes rs147809878
- Uncertain significance
- Dilated cardiomyopathy 1W
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- AlphaMissense 0.80
- MetaLR 0.14
- MetaSVM -0.89
- PolyPhen-2 0.42
- SIFT 0.02
- EVE 0.14
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1W)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)