A100V (p.Ala100Val) variant of MYH7 (Myosin-7)
A100V (p.Ala100Val) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy; not specified; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes structural context.
A100V (p.Ala100Val) variant details
- p.Ala100Val
- rs876657882
- ClinGen CA10576964
- ClinVar RCV000218742
- ClinVar RCV001056161
- Uncertain significance
- Hypertrophic cardiomyopathy; not specified; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.80
- MetaSVM 0.86
- CADD 27.90
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; not specified; Cardiovascular pheno)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available