G209S (p.Gly209Ser) variant of SLC37A4 (O43826)
G209S (p.Gly209Ser) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glucose-6-phosphate transport defect. 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.
G209S (p.Gly209Ser) variant details
- p.Gly209Ser
- gnomAD rs1272300904
- Pathogenic
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- CADD 25.10
- PolyPhen-2 0.13
- SIFT 0.22
- ClinVar: Pathogenic (Glucose-6-phosphate transport defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available