E121Q (p.Glu121Gln) variant of PYGM (P11217)
E121Q (p.Glu121Gln) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes structural context.
E121Q (p.Glu121Gln) variant details
- p.Glu121Gln
- Ensembl rs2058409959
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.65
- MetaLR 0.82
- MetaSVM 0.54
- SIFT 0.00
- Structural context available