V606M (p.Val606Met) variant of MYH7 (Myosin-7)
V606M (p.Val606Met) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Myosin storage myopathy; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
V606M (p.Val606Met) variant details
- p.Val606Met
- rs121913627
- ClinGen CA011311
- ClinVar RCV000015147
- ClinVar RCV000015167
- Pathogenic
- Myosin storage myopathy; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.71
- AlphaMissense 0.79
- MetaLR 0.60
- MetaSVM 0.06
- CADD 24.80
- PolyPhen-2 0.01
- ClinVar: Pathogenic (Hypertrophic cardiomyopathy 1)
- EBI: Pathogenic (in CMH1)
- UniProt: Pathogenic (in CMH1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children. (PMID 11133230)
- Cited in: Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy. (PMID 11424919)