E23D (p.Glu23Asp) variant of PYGM (P11217)
E23D (p.Glu23Asp) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes structural context.
E23D (p.Glu23Asp) variant details
- p.Glu23Asp
- TOPMed rs1403210693
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- ESM-1b 0.78
- AlphaMissense 0.21
- Structural context available