E11E (p.Glu11Glu) variant of SLC2A4 (P14672)
E11E (p.Glu11Glu) in SLC2A4 (P14672) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E11E (p.Glu11Glu) variant details
- p.Glu11Glu
- gnomAD 17-7281967-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.304
- CADD 18.20
- Population evidence available
- Structural context available
- Literature evidence available