A280P (p.Ala280Pro) variant of SLC37A4 (O43826)
A280P (p.Ala280Pro) 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 record also includes structural context.
A280P (p.Ala280Pro) variant details
- p.Ala280Pro
- Ensembl rs1555190969
- Likely pathogenic
- Glucose-6-phosphate transport defect
- Missense
- ClinVar: Likely pathogenic (Glucose-6-phosphate transport defect)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available