H64Y (p.His64Tyr) variant of HBB (Hemoglobin subunit beta)
H64Y (p.His64Tyr) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; beta Thalassemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
H64Y (p.His64Tyr) variant details
- p.His64Tyr
- rs33922873
- ClinGen CA125011
- ClinVar RCV000016466
- ClinVar RCV000641524
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; beta Thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.987
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; beta Thalassemia)
- EBI: Pathogenic (in M-Saskatoon)
- UniProt: Pathogenic (in M-Saskatoon)
- Structural context available
- Cited in: [HbM Erlangen: alpha2beta263(e7) tyr. New mutation with haemolysis and NADH-methaemoglobin reductase deficiency… (PMID 1163074)
- Cited in: [Congenital cardiac defect with cyanosis caused by pathological blood pigment (hemoglobin M)]. (PMID 13509426)