D85Y (p.Asp85Tyr) variant of MYH6 (Myosin-6)
D85Y (p.Asp85Tyr) in MYH6 (Myosin-6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
D85Y (p.Asp85Tyr) variant details
- p.Asp85Tyr
- ExAC rs397516758
- TOPMed rs397516758
- gnomAD rs397516758
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.68
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available