D8A (p.Asp8Ala) variant of MYO7A (Unconventional myosin-VIIa)
D8A (p.Asp8Ala) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
D8A (p.Asp8Ala) variant details
- p.Asp8Ala
- gnomAD 11-77142713-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.88
- CADD 26.80
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available