R94L (p.Arg94Leu) variant of PYGM (P11217)
R94L (p.Arg94Leu) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
R94L (p.Arg94Leu) variant details
- p.Arg94Leu
- TOPMed rs2058411786
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.04
- SIFT 0.07
- Structural context available