R46G (p.Arg46Gly) variant of SLC5A2 (Sodium/glucose cotransporter 2)
R46G (p.Arg46Gly) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R46G (p.Arg46Gly) variant details
- p.Arg46Gly
- TOPMed rs2082481031
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.69
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available