E5Q (p.Glu5Gln) variant of SLC30A8 (Q8IWU4)
E5Q (p.Glu5Gln) in SLC30A8 (Q8IWU4) is a missense 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.
E5Q (p.Glu5Gln) variant details
- p.Glu5Gln
- gnomAD 8-117135340-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.17
- CADD 24.30
- PolyPhen-2 0.52
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available