G133C (p.Gly133Cys) variant of PYGM (P11217)
G133C (p.Gly133Cys) in PYGM (P11217) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
G133C (p.Gly133Cys) variant details
- p.Gly133Cys
- TOPMed rs1085308021
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available