V320M (p.Val320Met) variant of MYH7 (Myosin-7)
V320M (p.Val320Met) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Myopathy, myosin storage, autosomal recessive; Hypertr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
V320M (p.Val320Met) variant details
- p.Val320Met
- rs376897125
- ClinGen CA017003
- ClinVar RCV000148711
- ClinVar RCV000201440
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Myopathy, myosin storage, autosomal recessive; Hypertr
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.90
- CADD 26.20
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Myopathy, myosin storage, autosomal re)
- EBI: Pathogenic (in CMH1)
- UniProt: Pathogenic (in CMH1)
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin… (PMID 12566107)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)