K50R (p.Lys50Arg) variant of MYO15A (Unconventional myosin-XV)
K50R (p.Lys50Arg) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
K50R (p.Lys50Arg) variant details
- p.Lys50Arg
- gnomAD rs2045838216
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.38
- CADD 24.50
- PolyPhen-2 0.91
- SIFT 0.02
- Population evidence available
- Structural context available