V34I (p.Val34Ile) variant of SLC37A4 (O43826)
V34I (p.Val34Ile) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Glucose-6-phosphate transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
V34I (p.Val34Ile) variant details
- p.Val34Ile
- ExAC rs782644732
- TOPMed rs782644732
- gnomAD rs782644732
- Uncertain significance
- Inborn genetic diseases; not provided; Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 22.70
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Glucose-6-phosphate trans)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0035)
- Structural context available