E2G (p.Glu2Gly) variant of SLC30A8 (Q8IWU4)
E2G (p.Glu2Gly) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E2G (p.Glu2Gly) variant details
- p.Glu2Gly
- ESP rs370648372
- ExAC rs370648372
- TOPMed rs370648372
- gnomAD rs370648372
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.14
- CADD 24.60
- PolyPhen-2 0.34
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00024)
- Structural context available