G5R (p.Gly5Arg) variant of SLC37A4 (O43826)
G5R (p.Gly5Arg) 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; Phosphate transport defect; Congenital dis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G5R (p.Gly5Arg) variant details
- p.Gly5Arg
- 1000Genomes rs571267951
- ExAC rs571267951
- TOPMed rs571267951
- gnomAD rs571267951
- Uncertain significance
- Glucose-6-phosphate transport defect; Phosphate transport defect; Congenital dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- CADD 16.40
- PolyPhen-2 0.61
- SIFT 0.05
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect; 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