M1V (p.Met1Val) variant of MYH7 (Myosin-7)
M1V (p.Met1Val) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs139250539
- ClinGen CA257826994
- ClinVar RCV001071024
- ClinVar RCV003372983
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.81
- ESM-1b 0.21
- AlphaMissense 0.11
- MetaLR 0.74
- MetaSVM 0.62
- CADD 24.20
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available