R137H (p.Arg137His) variant of SLC5A2 (Sodium/glucose cotransporter 2)
R137H (p.Arg137His) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Familial renal glucosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
R137H (p.Arg137His) variant details
- p.Arg137His
- rs377126753
- ESP rs377126753
- ExAC rs377126753
- TOPMed rs377126753
- Likely pathogenic
- Familial renal glucosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.89
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial renal glucosuria)
- UniProt: Likely pathogenic
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available