L348P (p.Leu348Pro) variant of SLC37A4 (O43826)
L348P (p.Leu348Pro) 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 0.67 / 1. The record also includes population frequency data and structural context.
L348P (p.Leu348Pro) variant details
- p.Leu348Pro
- TOPMed rs1210588522
- gnomAD rs1210588522
- Likely pathogenic
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Glucose-6-phosphate transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available