V62I (p.Val62Ile) variant of VCL (Vinculin)
V62I (p.Val62Ile) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
V62I (p.Val62Ile) variant details
- p.Val62Ile
- rs147809878
- ClinGen CA5562722
- ClinVar RCV001901653
- ClinVar RCV002407042
- Uncertain significance
- Dilated cardiomyopathy 1W; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.12
- AlphaMissense 0.80
- MetaLR 0.14
- MetaSVM -0.89
- CADD 22.20
- PolyPhen-2 0.42
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1W; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)