P23T (p.Pro23Thr) variant of SLC5A2 (Sodium/glucose cotransporter 2)
P23T (p.Pro23Thr) 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 Familial renal glucosuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P23T (p.Pro23Thr) variant details
- p.Pro23Thr
- TOPMed rs1382300816
- gnomAD rs1382300816
- Uncertain significance
- Familial renal glucosuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.19
- CADD 10.10
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (Familial renal glucosuria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available