A2E (p.Ala2Glu) variant of MYO15A (Unconventional myosin-XV)
A2E (p.Ala2Glu) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- gnomAD 17-18118805-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.38
- CADD 18.10
- PolyPhen-2 0.03
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available