L15P (p.Leu15Pro) variant of HBB (Hemoglobin subunit beta)
L15P (p.Leu15Pro) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L15P (p.Leu15Pro) variant details
- p.Leu15Pro
- rs33935445
- ClinGen CA125145
- ClinVar RCV000016584
- ClinVar RCV000508682
- Uncertain significance
- Erythrocytosis, familial, 6; Heinz body anemia; Beta-thalassemia HBB/LCRB
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.88
- MetaSVM 0.91
- CADD 22.80
- ClinVar: Uncertain significance (Erythrocytosis, familial, 6; Heinz body anemia; Beta-thalassemia)
- EBI: Benign (in Saki)
- UniProt: Benign (in Saki)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Haemoglobin Saki alpha 2 beta 2 14 Leu-Pro(a11) structure and function. (PMID 237566)
- Cited in: Hemoglobin O arab in four negro families and its interaction with hemoglobin S and hemoglobin C. (PMID 5481775)