L89P (p.Leu89Pro) variant of HBB (Hemoglobin subunit beta)
L89P (p.Leu89Pro) 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 Beta-thalassemia HBB/LCRB; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
L89P (p.Leu89Pro) variant details
- p.Leu89Pro
- rs33940204
- ClinGen CA125149
- ClinVar RCV000016586
- ClinVar RCV000757364
- Pathogenic/Likely pathogenic
- Beta-thalassemia HBB/LCRB; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.994
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Pathogenic/Likely pathogenic (Beta-thalassemia HBB/LCRB; not provided)
- EBI: Pathogenic (in Santa Ana)
- UniProt: Pathogenic (in Santa Ana)
- Structural context available
- Cited in: Oxygen binding and stability properties of Hb Santa Ana (beta 88 Leu----Pro). (PMID 3839771)
- Cited in: Hereditary non-spherocytic haemolytic anaemia with post-splenectomy inclusion bodies and pigmenturia caused by an… (PMID 5713642)