E22D (p.Glu22Asp) variant of GYS2 (P54840)
E22D (p.Glu22Asp) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
E22D (p.Glu22Asp) variant details
- p.Glu22Asp
- ExAC rs755644570
- TOPMed rs755644570
- gnomAD rs755644570
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available