H147P (p.His147Pro) variant of HBB (Hemoglobin subunit beta)
H147P (p.His147Pro) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Beta-thalassemia HBB/LCRB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
H147P (p.His147Pro) variant details
- p.His147Pro
- rs33954264
- ClinGen CA125245
- ClinVar RCV000016648
- ClinVar RCV000641629
- Pathogenic
- Beta-thalassemia HBB/LCRB
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- ESM-1b 1.00
- AlphaMissense 0.86
- ClinVar: Pathogenic (Beta-thalassemia HBB/LCRB)
- EBI: Pathogenic (in York)
- UniProt: Pathogenic (in York)
- Structural context available
- Cited in: Altered C-terminal salt bridges in haemoglobin York cause high oxygen affinity. (PMID 1246355)
- Cited in: Characterization and properties of Hb York (beta 146 His leads to Pro). (PMID 6874372)