G351E (p.Gly351Glu) variant of G6PD (P11413)
G351E (p.Gly351Glu) in G6PD (P11413) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G351E (p.Gly351Glu) variant details
- p.Gly351Glu
- TOPMed rs2070355916
- gnomAD rs2070355916
- Likely pathogenic
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.95
- AlphaMissense 0.61
- MetaLR 1.00
- MetaSVM 0.92
- CADD 25.80
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- UniProt: Likely pathogenic
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available