L107P (p.Leu107Pro) variant of HBB (Hemoglobin subunit beta)
L107P (p.Leu107Pro) 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 0.99 / 1. The record also includes published literature and structural context.
L107P (p.Leu107Pro) variant details
- p.Leu107Pro
- rs33941844
- ClinGen CA125174
- ClinVar RCV000016605
- ClinVar RCV000016606
- Pathogenic
- Beta-thalassemia HBB/LCRB
- Missense
- Variant Prioritization Score for Impact Estimate 0.988
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Pathogenic (Beta-thalassemia HBB/LCRB)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hemoglobin Willamette (alpha2beta2 51Pro replaced by Apg (D2)) a new abnormal human hemoglobin. (PMID 1052170)
- Cited in: Hemoglobin Southampton (Casper) inclusions resembling intracellular parasites. (PMID 37347497)