F46C (p.Phe46Cys) variant of HBB (Hemoglobin subunit beta)
F46C (p.Phe46Cys) 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 Erythrocytosis, familial, 6; Heinz body anemia; Beta-thalassemia HBB/LCRB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
F46C (p.Phe46Cys) variant details
- p.Phe46Cys
- rs33978338
- ClinGen CA125424
- ClinVar RCV000016812
- ClinVar RCV005049377
- Likely pathogenic
- Erythrocytosis, familial, 6; Heinz body anemia; Beta-thalassemia HBB/LCRB
- Missense
- Variant Prioritization Score for Impact Estimate 0.986
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Likely pathogenic (Erythrocytosis, familial, 6; Heinz body anemia; Beta-thalassemia)
- EBI: Likely pathogenic (in Cheverly)
- UniProt: Likely pathogenic (in Cheverly)
- Structural context available
- Cited in: Hb Arta [beta 45 (CD4) Phe-->Cys]: a new unstable haemoglobin with reduced oxygen affinity in trans with… (PMID 8555060)
- Cited in: Beta-Thalassemia. (PMID 20301599)