R132H (p.Arg132His) variant of SLC5A2 (Sodium/glucose cotransporter 2)
R132H (p.Arg132His) 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 SLC5A2-related disorder; not provided; Familial renal glucosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R132H (p.Arg132His) variant details
- p.Arg132His
- rs193920818
- ClinGen CA174434
- ClinVar RCV000149141
- ClinVar RCV003137648
- Uncertain significance
- SLC5A2-related disorder; not provided; Familial renal glucosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- REVEL 0.98
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (SLC5A2-related disorder; not provided; Familial renal glucosuria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
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