A469T (p.Ala469Thr) variant of SLC5A2 (Sodium/glucose cotransporter 2)
A469T (p.Ala469Thr) 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 0.76 / 1. The record also includes population frequency data and structural context.
A469T (p.Ala469Thr) variant details
- p.Ala469Thr
- rs149680639
- ESP rs149680639
- TOPMed rs149680639
- gnomAD rs149680639
- Likely pathogenic
- Familial renal glucosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.75
- CADD 24.70
- PolyPhen-2 0.77
- SIFT 0.02
- ClinVar: Likely pathogenic (Familial renal glucosuria)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available