L44S (p.Leu44Ser) variant of SLC37A4 (O43826)
L44S (p.Leu44Ser) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Glucose-6-phosphate transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
L44S (p.Leu44Ser) variant details
- p.Leu44Ser
- TOPMed rs1006211844
- gnomAD rs1006211844
- Uncertain significance
- Inborn genetic diseases; Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Glucose-6-phosphate transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Amish population (allele frequency 0.0011)
- Structural context available