V39M (p.Val39Met) variant of MYH7 (Myosin-7)
V39M (p.Val39Met) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
V39M (p.Val39Met) variant details
- p.Val39Met
- rs376160714
- ClinGen CA010307
- ClinVar RCV000035703
- ClinVar RCV000148712
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.57
- MetaLR 0.85
- MetaSVM 0.87
- CADD 32.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Pathogenic (in CMH1)
- UniProt: Pathogenic (in CMH1)
- Most common in the HGDP:MIAO population (allele frequency 0.05)
- Structural context available
- Cited in: Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular… (PMID 12707239)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)