E61Q (p.Glu61Gln) variant of SLC30A8 (Q8IWU4)
E61Q (p.Glu61Gln) in SLC30A8 (Q8IWU4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E61Q (p.Glu61Gln) variant details
- p.Glu61Gln
- rs926149634
- gnomAD 8-117147058-C-CCA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 22.00
- Population evidence available
- Structural context available
- Literature evidence available