D79E (p.Asp79Glu) variant of PYGM (P11217)
D79E (p.Asp79Glu) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
D79E (p.Asp79Glu) variant details
- p.Asp79Glu
- gnomAD rs1455517747
- Missense
- Variant Prioritization Score for Impact Estimate 0.974
- ESM-1b 1.00
- AlphaMissense 0.94
- Structural context available