R60C (p.Arg60Cys) variant of SLC5A2 (Sodium/glucose cotransporter 2)
R60C (p.Arg60Cys) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial renal glucosuria; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
R60C (p.Arg60Cys) variant details
- p.Arg60Cys
- rs201586410
- ClinGen CA8030623
- ClinVar RCV003904479
- ClinVar RCV005015099
- Uncertain significance
- Familial renal glucosuria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.80
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial renal glucosuria; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available