V3A (p.Val3Ala) variant of VCL (Vinculin)
V3A (p.Val3Ala) in VCL (Vinculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V3A (p.Val3Ala) variant details
- p.Val3Ala
- rs1285375542
- ClinGen CA377254505
- ClinVar RCV003995138
- ClinVar RCV005301425
- Uncertain significance
- not specified; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.31
- CADD 27.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available