A113T (p.Ala113Thr) variant of SLC37A4 (O43826)
A113T (p.Ala113Thr) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glucose-6-phosphate transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
A113T (p.Ala113Thr) variant details
- p.Ala113Thr
- TOPMed rs1391228799
- gnomAD rs1391228799
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available