L85P (p.Leu85Pro) variant of SLC37A4 (O43826)
L85P (p.Leu85Pro) 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 0.82 / 1. The record also includes published literature and structural context.
L85P (p.Leu85Pro) variant details
- p.Leu85Pro
- rs193302899
- UniProt VAR 025589
- TOPMed rs193302899
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- AlphaMissense 0.82
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in GSD1B)
- UniProt: Pathogenic (in GSD1B)
- Structural context available
- Cited in: Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. (PMID 11949931)
- Cited in: Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. (PMID 10026167)