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 0.70 / 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 0.696
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.18
- MetaLR 0.82
- MetaSVM 0.76
- CADD 26.60
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)