T5R (p.Thr5Arg) variant of SLC5A2 (Sodium/glucose cotransporter 2)
T5R (p.Thr5Arg) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T5R (p.Thr5Arg) variant details
- p.Thr5Arg
- rs748202554
- ExAC rs748202554
- TOPMed rs748202554
- gnomAD rs748202554
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.27
- CADD 8.86
- PolyPhen-2 0.00
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available