Q16E (p.Gln16Glu) variant of SLC5A2 (Sodium/glucose cotransporter 2)
Q16E (p.Gln16Glu) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Q16E (p.Gln16Glu) variant details
- p.Gln16Glu
- ExAC rs760219242
- TOPMed rs760219242
- gnomAD rs760219242
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.20
- CADD 8.28
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available