E23E (p.Glu23Glu) variant of SLC30A8 (Q8IWU4)
E23E (p.Glu23Glu) in SLC30A8 (Q8IWU4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E23E (p.Glu23Glu) variant details
- p.Glu23Glu
- rs771712748
- gnomAD 8-117135396-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.331
- CADD 11.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available