T53I (p.Thr53Ile) variant of SLC37A4 (O43826)
T53I (p.Thr53Ile) 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 0.74 / 1. The record also includes population frequency data and structural context.
T53I (p.Thr53Ile) variant details
- p.Thr53Ile
- TOPMed rs953252068
- gnomAD rs953252068
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- CADD 22.60
- PolyPhen-2 0.35
- SIFT 0.29
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available