G50V (p.Gly50Val) variant of SLC37A4 (O43826)
G50V (p.Gly50Val) 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. The record also includes structural context.
G50V (p.Gly50Val) variant details
- p.Gly50Val
- 1000Genomes rs193302877
- ExAC rs193302877
- gnomAD rs193302877
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Variant of uncertain significance (in GSD1B)
- UniProt: Uncertain significance (in GSD1B)
- Structural context available