E2A (p.Glu2Ala) variant of SLC5A2 (Sodium/glucose cotransporter 2)
E2A (p.Glu2Ala) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E2A (p.Glu2Ala) variant details
- p.Glu2Ala
- TOPMed rs1040141665
- gnomAD rs1040141665
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.28
- CADD 23.60
- PolyPhen-2 0.02
- SIFT 0.02
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available