M74V (p.Met74Val) variant of VCL (Vinculin)
M74V (p.Met74Val) in VCL (Vinculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
M74V (p.Met74Val) variant details
- p.Met74Val
- rs1196607553
- ClinGen CA377260211
- ClinVar RCV000498510
- TOPMed rs1196607553
- Likely benign
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.38
- CADD 25.60
- PolyPhen-2 0.87
- SIFT 0.01
- ClinVar: Likely benign (Hypertrophic cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available