V62A (p.Val62Ala) variant of VCL (Vinculin)
V62A (p.Val62Ala) 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; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
V62A (p.Val62Ala) variant details
- p.Val62Ala
- rs769799445
- ClinGen CA5562723
- ClinVar RCV000460522
- ClinVar RCV000614341
- Uncertain significance
- Cardiovascular phenotype; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.13
- CADD 23.20
- PolyPhen-2 0.23
- SIFT 0.12
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:COLOMBIAN population (allele frequency 0.17)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)