L115P (p.Leu115Pro) variant of HBB (Hemoglobin subunit beta)
L115P (p.Leu115Pro) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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.
L115P (p.Leu115Pro) variant details
- p.Leu115Pro
- rs36015961
- ClinGen CA125376
- ClinVar RCV000016775
- ClinVar RCV000016776
- Pathogenic/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: Pathogenic/Likely pathogenic (Erythrocytosis, familial, 6; Heinz body anemia; Beta-thalassemia)
- EBI: Pathogenic (in B-THAL)
- UniProt: Pathogenic (in B-THAL)
- Structural context available
- Cited in: A Korean family with a dominantly inherited beta-thalassemia due to Hb Durham-N.C./Brescia. (PMID 11300352)
- Cited in: A novel beta-globin structural mutant, Hb Brescia (beta 114 Leu-Pro), causing a severe beta-thalassemia intermedia… (PMID 1301199)