H32Y (p.His32Tyr) variant of G6PD (P11413)
H32Y (p.His32Tyr) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
H32Y (p.His32Tyr) variant details
- p.His32Tyr
- rs2070702973
- ClinGen CA415202009
- ClinVar RCV001969065
- ClinVar RCV005432877
- Conflicting interpretations
- not specified; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.69
- AlphaMissense 0.30
- MetaLR 0.91
- MetaSVM 0.90
- CADD 22.70
- PolyPhen-2 0.76
- ClinVar: Conflicting classifications of pathogenicity (not specified; Anemia, nonspherocytic hemolytic, due to G6PD def)
- EBI: Likely pathogenic (in CNSHA1)
- UniProt: Likely pathogenic (in CNSHA1)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)