E40D (p.Glu40Asp) variant of SLC30A8 (Q8IWU4)
E40D (p.Glu40Asp) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E40D (p.Glu40Asp) variant details
- p.Glu40Asp
- gnomAD rs1374352556
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.06
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available