V59I (p.Val59Ile) variant of MYH7 (Myosin-7)
V59I (p.Val59Ile) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V59I (p.Val59Ile) variant details
- p.Val59Ile
- rs771132107
- UniProt VAR 004567
- ExAC rs771132107
- gnomAD rs771132107
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.48
- MetaSVM -0.42
- CADD 13.91
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Pathogenic (in CMH1)
- UniProt: Pathogenic (in CMH1)
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- Cited in: Missense mutation of the beta-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy. (PMID 8533830)
- Cited in: Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late… (PMID 10065021)