E2E (p.Glu2Glu) variant of SLC30A8 (Q8IWU4)
E2E (p.Glu2Glu) in SLC30A8 (Q8IWU4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E2E (p.Glu2Glu) variant details
- p.Glu2Glu
- rs766192430
- gnomAD 8-117135333-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.382
- CADD 4.63
- Most common in the East Asian population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available