G133S (p.Gly133Ser) variant of PYGM (P11217)
G133S (p.Gly133Ser) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
G133S (p.Gly133Ser) variant details
- p.Gly133Ser
- rs1085308021
- ClinGen CA381109682
- ClinVar RCV000489796
- TOPMed rs1085308021
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available