E12E (p.Glu12Glu) variant of SLC5A2 (Sodium/glucose cotransporter 2)
E12E (p.Glu12Glu) in SLC5A2 (Sodium/glucose cotransporter 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E12E (p.Glu12Glu) variant details
- p.Glu12Glu
- gnomAD 16-31483172-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 1.09
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available