R77L (p.Arg77Leu) variant of SLC37A4 (O43826)
R77L (p.Arg77Leu) 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; Congenital disorder of glycosylation, type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
R77L (p.Arg77Leu) variant details
- p.Arg77Leu
- 1000Genomes rs370839177
- ESP rs370839177
- ExAC rs370839177
- TOPMed rs370839177
- Uncertain significance
- Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect; Congenital disorder of gly)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available