D282H (p.Asp282His) variant of G6PD (P11413)
D282H (p.Asp282His) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Anemia, nonspherocytic hemolytic, due to G6PD deficienc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
D282H (p.Asp282His) variant details
- p.Asp282His
- rs137852318
- ClinGen CA120963
- ClinVar RCV000011092
- ClinVar RCV000011093
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Anemia, nonspherocytic hemolytic, due to G6PD deficienc
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.88
- AlphaMissense 0.32
- MetaLR 0.99
- MetaSVM 0.95
- CADD 23.50
- PolyPhen-2 0.99
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Anemia, nonspherocytic hemolytic, due t)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Two point mutations are responsible for G6PD polymorphism in Sardinia. (PMID 2912069)
- Cited in: A new structural variant of glucose-6-phosphate dehydrogenase with a high production rate (G6PD Hektoen). (PMID 4974311)