P119R (p.Pro119Arg) variant of SLC37A4 (O43826)
P119R (p.Pro119Arg) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases; Glucose-6-phosphate transport defect. The record also includes structural context.
P119R (p.Pro119Arg) variant details
- p.Pro119Arg
- TOPMed rs1943633170
- Uncertain significance
- not provided; Inborn genetic diseases; Glucose-6-phosphate transport defect
- Missense
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Glucose-6-phosphate trans)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available