R132S (p.Arg132Ser) variant of SLC5A2 (Sodium/glucose cotransporter 2)
R132S (p.Arg132Ser) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R132S (p.Arg132Ser) variant details
- p.Arg132Ser
- rs768579234
- ClinGen CA395752056
- ClinVar RCV003248457
- ClinVar RCV005021879
- Uncertain significance
- Familial renal glucosuria; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.94
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial renal glucosuria; Inborn genetic diseases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)