D85H (p.Asp85His) variant of MYH7 (Myosin-7)
D85H (p.Asp85His) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
D85H (p.Asp85His) variant details
- p.Asp85His
- rs770246266
- ClinGen CA033179
- ClinVar RCV001312602
- ExAC rs770246266
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.83
- MetaSVM 0.75
- CADD 27.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available