G88D (p.Gly88Asp) variant of SLC37A4 (O43826)
G88D (p.Gly88Asp) in SLC37A4 (O43826) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G88D (p.Gly88Asp) variant details
- p.Gly88Asp
- rs193302886
- UniProt VAR 025590
- Ensembl rs193302886
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.983
- AlphaMissense 0.98
- ClinVar: not provided (not provided)
- 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)