R17G (p.Arg17Gly) variant of PYGM (P11217)
R17G (p.Arg17Gly) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
R17G (p.Arg17Gly) variant details
- p.Arg17Gly
- ExAC rs774650561
- TOPMed rs774650561
- gnomAD rs774650561
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- ESM-1b 1.00
- AlphaMissense 0.60
- Structural context available