K49E (p.Lys49Glu) variant of MYO15A (Unconventional myosin-XV)
K49E (p.Lys49Glu) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
K49E (p.Lys49Glu) variant details
- p.Lys49Glu
- gnomAD 17-18118945-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.50
- ESM-1b 0.21
- AlphaMissense 0.87
- CADD 25.50
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available