F104L (p.Phe104Leu) variant of HBB (Hemoglobin subunit beta)
F104L (p.Phe104Leu) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic; other in the context of HEMOGLOBIN HEATHROW; Erythrocytosis, familial, 6. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
F104L (p.Phe104Leu) variant details
- p.Phe104Leu
- rs35067717
- ClinGen CA124894
- ClinVar RCV000016375
- ClinVar RCV000641462
- Pathogenic; other
- HEMOGLOBIN HEATHROW; Erythrocytosis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Pathogenic; other (HEMOGLOBIN HEATHROW; Erythrocytosis, familial, 6)
- EBI: Pathogenic (in Heathrow)
- UniProt: Pathogenic (in Heathrow)
- Structural context available
- Cited in: Familial polycythaemia caused by a new haemoglobin variant: Hb Heathrow, beta 103 (G5) phenylalanine leads to leucine. (PMID 4742453)