E2Q (p.Glu2Gln) variant of SLC5A2 (Sodium/glucose cotransporter 2)
E2Q (p.Glu2Gln) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E2Q (p.Glu2Gln) variant details
- p.Glu2Gln
- ExAC rs768922655
- TOPMed rs768922655
- gnomAD rs768922655
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.19
- CADD 19.10
- PolyPhen-2 0.03
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available