D43Y (p.Asp43Tyr) variant of MYO7A (Unconventional myosin-VIIa)
D43Y (p.Asp43Tyr) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
D43Y (p.Asp43Tyr) variant details
- p.Asp43Tyr
- gnomAD 11-77142817-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.25
- CADD 24.90
- PolyPhen-2 0.20
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available