A104T (p.Ala104Thr) variant of SLC37A4 (O43826)
A104T (p.Ala104Thr) 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 0.31 / 1. The record also includes population frequency data and structural context.
A104T (p.Ala104Thr) variant details
- p.Ala104Thr
- ExAC rs781808875
- TOPMed rs781808875
- gnomAD rs781808875
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- CADD 16.90
- PolyPhen-2 0.02
- SIFT 0.39
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available