V71M (p.Val71Met) variant of MYH7 (Myosin-7)
V71M (p.Val71Met) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Myosin storage myopathy; MYH7-related skeletal myopath. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
V71M (p.Val71Met) variant details
- p.Val71Met
- rs730880830
- ClinGen CA011723
- NCI-TCGA Cosmic COSV6252
- ClinVar RCV000168833
- Uncertain significance
- Cardiovascular phenotype; Myosin storage myopathy; MYH7-related skeletal myopath
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.67
- CADD 25.00
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Myosin storage myopathy; MYH7-related)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)