D85G (p.Asp85Gly) variant of MYH7 (Myosin-7)
D85G (p.Asp85Gly) 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 0.84 / 1. The record also includes published literature and structural context.
D85G (p.Asp85Gly) variant details
- p.Asp85Gly
- rs2502320265
- ClinGen CA389053346
- ClinVar RCV004016752
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.88
- MetaSVM 0.96
- CADD 28.70
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)