A89T (p.Ala89Thr) variant of SLC5A2 (Sodium/glucose cotransporter 2)
A89T (p.Ala89Thr) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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, published literature, and structural context.
A89T (p.Ala89Thr) variant details
- p.Ala89Thr
- rs886037850
- ClinGen CA10586213
- NCI-TCGA Cosmic COSV5789
- ClinVar RCV000239563
- Pathogenic
- Familial renal glucosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.88
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Familial renal glucosuria)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria. (PMID 26376857)