E111* (p.Glu111Ter) variant of PYGM (P11217)
E111* (p.Glu111Ter) in PYGM (P11217) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes structural context.
E111* (p.Glu111Ter) variant details
- p.Glu111Ter
- rs779392056
- ClinGen CA381110987
- ClinVar RCV001814419
- ExAC rs779392056
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.614
- AlphaMissense 0.82
- MetaLR 0.71
- MetaSVM 0.49
- PolyPhen-2 0.93
- SIFT 0.11
- EVE 0.24
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available