E40Q (p.Glu40Gln) variant of SLC30A8 (Q8IWU4)
E40Q (p.Glu40Gln) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E40Q (p.Glu40Gln) variant details
- p.Glu40Gln
- ExAC rs756658613
- gnomAD rs756658613
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.05
- CADD 16.20
- PolyPhen-2 0.03
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available