L49V (p.Leu49Val) variant of SLC37A4 (O43826)
L49V (p.Leu49Val) 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 0.22 / 1. The record also includes population frequency data and structural context.
L49V (p.Leu49Val) variant details
- p.Leu49Val
- TOPMed rs1277675258
- gnomAD rs1277675258
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- CADD 17.70
- PolyPhen-2 0.17
- SIFT 0.25
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available