A219T (p.Ala219Thr) variant of SLC5A2 (Sodium/glucose cotransporter 2)
A219T (p.Ala219Thr) 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 0.80 / 1. The record also includes population frequency data and structural context.
A219T (p.Ala219Thr) variant details
- p.Ala219Thr
- ExAC rs750354268
- TOPMed rs750354268
- gnomAD rs750354268
- Likely pathogenic
- Familial renal glucosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.77
- CADD 36.00
- PolyPhen-2 0.45
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial renal glucosuria)
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available