D62G (p.Asp62Gly) variant of PYGM (P11217)
D62G (p.Asp62Gly) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
D62G (p.Asp62Gly) variant details
- p.Asp62Gly
- TOPMed rs2058421121
- Missense
- Variant Prioritization Score for Impact Estimate 0.99
- ESM-1b 1.00
- AlphaMissense 0.98
- Structural context available