N126D (p.Asn126Asp) variant of G6PD (P11413)
N126D (p.Asn126Asp) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
N126D (p.Asn126Asp) variant details
- p.Asn126Asp
- rs1050829
- ClinGen CA120939
- cosmic curated COSV63703
- ClinVar RCV000011073
- Likely pathogenic
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.27
- CADD 4.20
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Likely pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: Structural defects underlying protein dysfunction in human glucose-6-phosphate dehydrogenase A(-) deficiency. (PMID 10734064)
- Cited in: Nucleotide variability at G6pd and the signature of malarial selection in humans. (PMID 12524354)