R35L (p.Arg35Leu) variant of MYO15A (Unconventional myosin-XV)
R35L (p.Arg35Leu) in MYO15A (Unconventional myosin-XV) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes structural context.
R35L (p.Arg35Leu) variant details
- p.Arg35Leu
- ExAC rs765495851
- TOPMed rs765495851
- gnomAD rs765495851
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- ESM-1b 0.00
- AlphaMissense 0.92
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available