A18T (p.Ala18Thr) variant of SLC5A2 (Sodium/glucose cotransporter 2)
A18T (p.Ala18Thr) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- 1000Genomes rs140617924
- ESP rs140617924
- ExAC rs140617924
- TOPMed rs140617924
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.17
- CADD 9.28
- PolyPhen-2 0.01
- SIFT 0.44
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available