F20I (p.Phe20Ile) variant of MYO7A (Unconventional myosin-VIIa)
F20I (p.Phe20Ile) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
F20I (p.Phe20Ile) variant details
- p.Phe20Ile
- gnomAD 11-77142748-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.78
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available