H64N (p.His64Asn) variant of HBB (Hemoglobin subunit beta)
H64N (p.His64Asn) 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 METHEMOGLOBINEMIA, BETA TYPE; 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.
H64N (p.His64Asn) variant details
- p.His64Asn
- rs33922873
- ClinGen CA217114143
- ClinVar RCV000855777
- ClinVar RCV005208152
- Pathogenic/Likely pathogenic
- METHEMOGLOBINEMIA, BETA TYPE; beta Thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.995
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Pathogenic/Likely pathogenic (METHEMOGLOBINEMIA, BETA TYPE; beta Thalassemia)
- EBI: Pathogenic (in M-Saskatoon)
- UniProt: Pathogenic (in M-Saskatoon)
- Structural context available
- Cited in: Partial glutathione reductase deficiency as a cause of diverse clinical manifestations in a family with unstable… (PMID 20692194)