V62F (p.Val62Phe) variant of VCL (Vinculin)
V62F (p.Val62Phe) in VCL (Vinculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
V62F (p.Val62Phe) variant details
- p.Val62Phe
- rs147809878
- ClinGen CA377259992
- ClinVar RCV004281336
- Uncertain significance
- Cardiovascular phenotype
- 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 (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available