S55R (p.Ser55Arg) variant of SLC37A4 (O43826)
S55R (p.Ser55Arg) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glucose-6-phosphate transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
S55R (p.Ser55Arg) variant details
- p.Ser55Arg
- rs193302884
- UniProt VAR 025587
- Ensembl rs193302884
- Likely pathogenic
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.993
- AlphaMissense 0.99
- ClinVar: Likely pathogenic (Glucose-6-phosphate transport defect)
- EBI: Pathogenic (in GSD1B)
- UniProt: Pathogenic (in GSD1B)
- Structural context available
- Cited in: A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage… (PMID 9758626)
- Cited in: Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. (PMID 10026167)