G5S (p.Gly5Ser) variant of SLC37A4 (O43826)
G5S (p.Gly5Ser) 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; Glucose-6-phosphate transport defect; Phosphate transpo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G5S (p.Gly5Ser) variant details
- p.Gly5Ser
- 1000Genomes rs571267951
- ExAC rs571267951
- TOPMed rs571267951
- gnomAD rs571267951
- Uncertain significance
- Inborn genetic diseases; Glucose-6-phosphate transport defect; Phosphate transpo
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 14.30
- PolyPhen-2 0.01
- SIFT 0.39
- ClinVar: Uncertain significance (Inborn genetic diseases; Glucose-6-phosphate transport defect; P)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available