R129G (p.Arg129Gly) variant of GYS2 (P54840)
R129G (p.Arg129Gly) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
R129G (p.Arg129Gly) variant details
- p.Arg129Gly
- TOPMed rs1217435046
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- ESM-1b 1.00
- AlphaMissense 0.31
- Structural context available