R50G (p.Arg50Gly) variant of PYGM (P11217)
R50G (p.Arg50Gly) in PYGM (P11217) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
R50G (p.Arg50Gly) variant details
- p.Arg50Gly
- 1000Genomes rs116987552
- ESP rs116987552
- ExAC rs116987552
- TOPMed rs116987552
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- ESM-1b 1.00
- AlphaMissense 0.81
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available