K12R (p.Lys12Arg) variant of MYO15A (Unconventional myosin-XV)
K12R (p.Lys12Arg) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
K12R (p.Lys12Arg) variant details
- p.Lys12Arg
- gnomAD 17-18118835-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.38
- ESM-1b 0.61
- AlphaMissense 0.17
- CADD 25.10
- PolyPhen-2 0.70
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available