E124* (p.Glu124Ter) variant of PYGM (P11217)
E124* (p.Glu124Ter) in PYGM (P11217) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
E124* (p.Glu124Ter) variant details
- p.Glu124Ter
- rs1555136459
- ClinGen CA381109873
- ClinVar RCV000668184
- TOPMed rs1555136459
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.57
- AlphaMissense 0.17
- MetaLR 0.79
- MetaSVM 0.43
- PolyPhen-2 0.31
- SIFT 0.49
- EVE 0.18
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Glycogen Storage Disease Type V. (PMID 20301518)