Q8R (p.Gln8Arg) variant of PYGM (P11217)
Q8R (p.Gln8Arg) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glycogen storage disease, type V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes structural context.
Q8R (p.Gln8Arg) variant details
- p.Gln8Arg
- Ensembl rs2058423135
- Uncertain significance
- Glycogen storage disease, type V
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- ESM-1b 1.00
- AlphaMissense 0.10
- ClinVar: Uncertain significance (Glycogen storage disease, type V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available