E26G (p.Glu26Gly) variant of GYS2 (P54840)
E26G (p.Glu26Gly) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E26G (p.Glu26Gly) variant details
- p.Glu26Gly
- ExAC rs767128558
- TOPMed rs767128558
- gnomAD rs767128558
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.09
- ESM-1b 0.83
- AlphaMissense 0.11
- CADD 24.30
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available