L116P (p.Leu116Pro) variant of SLC37A4 (O43826)
L116P (p.Leu116Pro) 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 0.62 / 1. The record also includes population frequency data and structural context.
L116P (p.Leu116Pro) variant details
- p.Leu116Pro
- ExAC rs781952950
- TOPMed rs781952950
- gnomAD rs781952950
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.31
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available