E12R (p.Glu12Arg) variant of SLC5A2 (Sodium/glucose cotransporter 2)
E12R (p.Glu12Arg) in SLC5A2 (Sodium/glucose cotransporter 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E12R (p.Glu12Arg) variant details
- p.Glu12Arg
- rs769066330
- gnomAD 16-31483166-A-AC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.235
- CADD 21.60
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available