G4D (p.Gly4Asp) variant of GYS2 (P54840)
G4D (p.Gly4Asp) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G4D (p.Gly4Asp) variant details
- p.Gly4Asp
- ExAC rs764394742
- gnomAD rs764394742
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 17.60
- PolyPhen-2 0.12
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available