E23D (p.Glu23Asp) variant of SLC30A8 (Q8IWU4)
E23D (p.Glu23Asp) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
E23D (p.Glu23Asp) variant details
- p.Glu23Asp
- ExAC rs771712748
- gnomAD rs771712748
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.05
- CADD 9.95
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available