M1V (p.Met1Val) variant of SLC37A4 (O43826)
M1V (p.Met1Val) 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 population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs786204740
- ClinGen CA274441
- ClinVar RCV000169589
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Glycogen Storage Disease Type I. (PMID 20301489)
- Cited in: Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical… (PMID 25356975)