G768R (p.Gly768Arg) variant of MYH7 (Myosin-7)
G768R (p.Gly768Arg) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; not provided; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G768R (p.Gly768Arg) variant details
- p.Gly768Arg
- rs727503260
- ClinGen CA012115
- ClinVar RCV000158527
- ClinVar RCV000820326
- Pathogenic
- Cardiovascular phenotype; not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.92
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic (Cardiovascular phenotype; not provided; Cardiomyopathy)
- 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: Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic… (PMID 12081993)
- Cited in: Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular… (PMID 12707239)