A137E (p.Ala137Glu) variant of GYS2 (P54840)
A137E (p.Ala137Glu) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes structural context.
A137E (p.Ala137Glu) variant details
- p.Ala137Glu
- ExAC rs781699106
- gnomAD rs781699106
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- ESM-1b 1.00
- AlphaMissense 0.36
- Structural context available