G66D (p.Gly66Asp) variant of MYH7 (Myosin-7)
G66D (p.Gly66Asp) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Cardiovascular phenotype; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
G66D (p.Gly66Asp) variant details
- p.Gly66Asp
- rs1893032620
- ClinGen CA389053588
- ClinVar RCV001233860
- ClinVar RCV004004852
- Uncertain significance
- Cardiomyopathy; Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.27
- MetaLR 0.76
- MetaSVM 0.60
- CADD 23.60
- ClinVar: Uncertain significance (Cardiomyopathy; Cardiovascular phenotype; Hypertrophic cardiomyo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)