V52M (p.Val52Met) variant of MYH7 (Myosin-7)
V52M (p.Val52Met) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
V52M (p.Val52Met) variant details
- p.Val52Met
- rs730880919
- ClinGen CA010937
- ClinVar RCV000158876
- ClinVar RCV001184493
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.21
- AlphaMissense 0.10
- MetaLR 0.30
- MetaSVM -0.82
- CADD 0.00
- PolyPhen-2 0.01
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)