G56D (p.Gly56Asp) variant of MYH7 (Myosin-7)
G56D (p.Gly56Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
G56D (p.Gly56Asp) variant details
- p.Gly56Asp
- rs727504870
- ClinGen CA389053688
- ClinVar RCV004016835
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.65
- AlphaMissense 0.23
- MetaLR 0.82
- MetaSVM 0.76
- CADD 22.80
- PolyPhen-2 0.89
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-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)