L111P (p.Leu111Pro) variant of HBB (Hemoglobin subunit beta)
L111P (p.Leu111Pro) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; beta Thalassemia; Hb SS disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
L111P (p.Leu111Pro) variant details
- p.Leu111Pro
- rs35256489
- ClinGen CA125166
- ClinVar RCV000016598
- ClinVar RCV000016599
- Pathogenic
- not provided; beta Thalassemia; Hb SS disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.93
- MetaSVM 1.12
- CADD 26.10
- ClinVar: Pathogenic (not provided; beta Thalassemia; Hb SS disease)
- EBI: Pathogenic (in Showa-Yakushiji)
- UniProt: Pathogenic (in Showa-Yakushiji)
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: Hb Showa-Yakushiji [beta110(G12)Leu-->Pro] in four unrelated patients from west Bengal. (PMID 15768552)
- Cited in: A novel globin structural mutant, Showa-Yakushiji (beta 110 Leu-Pro) causing a beta-thalassemia phenotype. (PMID 2822177)