D8Y (p.Asp8Tyr) variant of MYO7A (Unconventional myosin-VIIa)
D8Y (p.Asp8Tyr) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
D8Y (p.Asp8Tyr) variant details
- p.Asp8Tyr
- gnomAD 11-77142712-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.92
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available