D13Y (p.Asp13Tyr) variant of MYO7A (Unconventional myosin-VIIa)
D13Y (p.Asp13Tyr) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
D13Y (p.Asp13Tyr) variant details
- p.Asp13Tyr
- gnomAD 11-77142727-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.91
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available