G148E (p.Gly148Glu) variant of SLC2A2 (P11168)
G148E (p.Gly148Glu) in SLC2A2 (P11168) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
G148E (p.Gly148Glu) variant details
- p.Gly148Glu
- ExAC rs777718289
- TOPMed rs777718289
- gnomAD rs777718289
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.68
- CADD 25.50
- PolyPhen-2 0.59
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available