L29P (p.Leu29Pro) variant of HBB (Hemoglobin subunit beta)
L29P (p.Leu29Pro) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hemoglobinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
L29P (p.Leu29Pro) variant details
- p.Leu29Pro
- rs33916412
- ClinGen CA124877
- ClinVar RCV000016362
- ClinVar RCV000016363
- Pathogenic
- Hemoglobinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.99
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Pathogenic (Hemoglobinopathy)
- EBI: Pathogenic (in Genova/Hyogo)
- UniProt: Pathogenic (in Genova/Hyogo)
- Structural context available
- Cited in: A case of the unstable Hb Genova (beta 28 Leu----Pro) in an Arab child associated with severe haemolytic anaemia and… (PMID 2105568)
- Cited in: [Familial case of Genova 28 (B10) Leu-Pro hemoglobin. Clinical, hematological, genetic and biochemical study of a… (PMID 4264206)