D21E (p.Asp21Glu) variant of SLC5A2 (Sodium/glucose cotransporter 2)
D21E (p.Asp21Glu) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
D21E (p.Asp21Glu) variant details
- p.Asp21Glu
- TOPMed rs1343769974
- gnomAD rs1343769974
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.18
- CADD 8.72
- PolyPhen-2 0.01
- SIFT 0.75
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available