R60G (p.Arg60Gly) variant of SLC5A2 (Sodium/glucose cotransporter 2)
R60G (p.Arg60Gly) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
R60G (p.Arg60Gly) variant details
- p.Arg60Gly
- 1000Genomes rs201586410
- ExAC rs201586410
- TOPMed rs201586410
- gnomAD rs201586410
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.63
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available