Y52D (p.Tyr52Asp) variant of PYGM (P11217)
Y52D (p.Tyr52Asp) 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.
Y52D (p.Tyr52Asp) variant details
- p.Tyr52Asp
- Ensembl rs1420873872
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- ESM-1b 1.00
- AlphaMissense 0.94
- Structural context available