Q52H (p.Gln52His) variant of MYO15A (Unconventional myosin-XV)
Q52H (p.Gln52His) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Q52H (p.Gln52His) variant details
- p.Gln52His
- ExAC rs747477704
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.89
- CADD 16.30
- PolyPhen-2 0.02
- SIFT 0.14
- Population evidence available
- Structural context available