R60H (p.Arg60His) variant of SLC5A2 (Sodium/glucose cotransporter 2)
R60H (p.Arg60His) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial renal glucosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
R60H (p.Arg60His) variant details
- p.Arg60His
- 1000Genomes rs758266027
- ExAC rs758266027
- TOPMed rs758266027
- gnomAD rs758266027
- Uncertain significance
- Familial renal glucosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.88
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Familial renal glucosuria)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available