G10R (p.Gly10Arg) variant of MYH7 (Myosin-7)
G10R (p.Gly10Arg) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Cardiomyopathy. 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.
G10R (p.Gly10Arg) variant details
- p.Gly10Arg
- rs199577321
- ClinGen CA013184
- ClinVar RCV000156860
- ClinVar RCV001171227
- Uncertain significance
- not specified; not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.83
- MetaSVM 0.91
- CADD 26.40
- ClinVar: Uncertain significance (not specified; not provided; Cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0017)
- 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)