R28L (p.Arg28Leu) variant of SLC37A4 (O43826)
R28L (p.Arg28Leu) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glucose-6-phosphate transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R28L (p.Arg28Leu) variant details
- p.Arg28Leu
- ExAC rs121908978
- gnomAD rs121908978
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- AlphaMissense 0.46
- MetaLR 0.10
- MetaSVM -1.05
- CADD 27.60
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Pathogenic (in GSD1B)
- UniProt: Pathogenic (in GSD1B)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available