E40A (p.Glu40Ala) variant of SLC30A8 (Q8IWU4)
E40A (p.Glu40Ala) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E40A (p.Glu40Ala) variant details
- p.Glu40Ala
- gnomAD 8-117147001-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.05
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available