N126Y (p.Asn126Tyr) variant of G6PD (P11413)
N126Y (p.Asn126Tyr) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
N126Y (p.Asn126Tyr) variant details
- p.Asn126Tyr
- rs1050829
- ClinGen CA10566254
- ClinVar RCV002170707
- ClinVar RCV005920955
- Conflicting interpretations
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.43
- CADD 13.80
- PolyPhen-2 0.39
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)