E12D (p.Glu12Asp) variant of SLC5A2 (Sodium/glucose cotransporter 2)
E12D (p.Glu12Asp) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
E12D (p.Glu12Asp) variant details
- p.Glu12Asp
- ExAC rs767139739
- gnomAD rs767139739
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.14
- CADD 2.07
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available