A58V (p.Ala58Val) variant of SLC37A4 (O43826)
A58V (p.Ala58Val) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Phosphate transport defect; Glucose-6-phosphate transport defect; Congenital dis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
A58V (p.Ala58Val) variant details
- p.Ala58Val
- ExAC rs782083266
- TOPMed rs782083266
- gnomAD rs782083266
- Uncertain significance
- Phosphate transport defect; Glucose-6-phosphate transport defect; Congenital dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.73
- ClinVar: Uncertain significance (Phosphate transport defect; Glucose-6-phosphate transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available