D62Y (p.Asp62Tyr) variant of PYGM (P11217)
D62Y (p.Asp62Tyr) in PYGM (P11217) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
D62Y (p.Asp62Tyr) variant details
- p.Asp62Tyr
- TOPMed rs2058421138
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.993
- ESM-1b 1.00
- AlphaMissense 0.98
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available