R10G (p.Arg10Gly) variant of SLC37A4 (O43826)
R10G (p.Arg10Gly) 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 0.69 / 1. The record also includes population frequency data and structural context.
R10G (p.Arg10Gly) variant details
- p.Arg10Gly
- 1000Genomes rs546577012
- ExAC rs546577012
- TOPMed rs546577012
- gnomAD rs546577012
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- AlphaMissense 0.26
- MetaLR 0.65
- MetaSVM -0.01
- CADD 26.90
- PolyPhen-2 0.65
- SIFT 0.01
- 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 9e-07)
- Structural context available