G131E (p.Gly131Glu) variant of G6PD (P11413)
G131E (p.Gly131Glu) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
G131E (p.Gly131Glu) variant details
- p.Gly131Glu
- 1000Genomes rs137852341
- ExAC rs137852341
- TOPMed rs137852341
- gnomAD rs137852341
- Uncertain significance
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.72
- CADD 16.90
- PolyPhen-2 0.40
- SIFT 0.18
- ClinVar: Uncertain significance (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available