L33Q (p.Leu33Gln) variant of HBB (Hemoglobin subunit beta)
L33Q (p.Leu33Gln) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 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.
L33Q (p.Leu33Gln) variant details
- p.Leu33Gln
- rs33948578
- ClinGen CA037802
- ClinVar RCV000016807
- ClinVar RCV001811076
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.992
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in Muscat)
- UniProt: Pathogenic (in Muscat)
- Structural context available
- Cited in: Two missense mutations in the beta-globin gene can cause severe beta thalassemia. Hemoglobin Medicine Lake (beta… (PMID 7860732)