R129W (p.Arg129Trp) variant of GYS2 (P54840)
R129W (p.Arg129Trp) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes structural context.
R129W (p.Arg129Trp) variant details
- p.Arg129Trp
- TOPMed rs1217435046
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- ESM-1b 1.00
- AlphaMissense 0.34
- MetaLR 0.18
- MetaSVM -0.93
- SIFT 0.13
- Structural context available