E27D (p.Glu27Asp) variant of GYS2 (P54840)
E27D (p.Glu27Asp) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes structural context.
E27D (p.Glu27Asp) variant details
- p.Glu27Asp
- TOPMed rs1470327566
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.12
- MetaSVM -0.94
- SIFT 0.04
- Structural context available