E43D (p.Glu43Asp) variant of SLC30A8 (Q8IWU4)
E43D (p.Glu43Asp) 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.
E43D (p.Glu43Asp) variant details
- p.Glu43Asp
- Ensembl rs1821929824
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.06
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available