H147L (p.His147Leu) variant of HBB (Hemoglobin subunit beta)
H147L (p.His147Leu) 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 Erythrocytosis, familial, 6; HEMOGLOBIN COWTOWN. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
H147L (p.His147Leu) variant details
- p.His147Leu
- rs33954264
- ClinGen CA124809
- ClinVar RCV000016307
- ClinVar RCV000641431
- Pathogenic; other
- Erythrocytosis, familial, 6; HEMOGLOBIN COWTOWN
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- ESM-1b 1.00
- AlphaMissense 0.87
- ClinVar: Pathogenic; other (Erythrocytosis, familial, 6; HEMOGLOBIN COWTOWN)
- EBI: Pathogenic (in Cowtown)
- UniProt: Pathogenic (in Cowtown)
- Structural context available
- Cited in: HEMOGLOBIN G-COUSHATTA: A NEW VARIANT IN AN AMERICAN INDIAN FAMILY. (PMID 14081243)
- Cited in: Hemoglobin P (alpha 2 beta 2 117 Arg): structure and properties. (PMID 5775133)