E124Q (p.Glu124Gln) variant of PYGM (P11217)
E124Q (p.Glu124Gln) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glycogen storage disease, type V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes structural context.
E124Q (p.Glu124Gln) variant details
- p.Glu124Gln
- TOPMed rs1555136459
- Uncertain significance
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.55
- ESM-1b 0.75
- AlphaMissense 0.17
- MetaLR 0.86
- MetaSVM 0.56
- SIFT 0.00
- ClinVar: Uncertain significance (Glycogen storage disease, type V)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available