H64R (p.His64Arg) variant of HBB (Hemoglobin subunit beta)
H64R (p.His64Arg) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hemoglobinopathy; 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.
H64R (p.His64Arg) variant details
- p.His64Arg
- rs33985544
- ClinGen CA125255
- ClinVar RCV000016654
- ClinVar RCV001284634
- Likely pathogenic
- Hemoglobinopathy; not provided; beta Thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.988
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Likely pathogenic (Hemoglobinopathy; not provided; beta Thalassemia)
- EBI: Likely pathogenic (in M-Saskatoon)
- UniProt: Likely pathogenic (in M-Saskatoon)
- Structural context available
- Cited in: A new abnormal human hemoglobin-Hb: Zurich. (PMID 13716725)
- Cited in: Haemoglobin Zurich: alpha 2A beta 2-63 Arg. (PMID 13726693)