F43L (p.Phe43Leu) variant of HBB (Hemoglobin subunit beta)
F43L (p.Phe43Leu) 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 beta Thalassemia. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
F43L (p.Phe43Leu) variant details
- p.Phe43Leu
- rs33924146
- ClinGen CA125001
- cosmic curated COSV58942
- ClinVar RCV000016458
- Likely pathogenic
- beta Thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (beta Thalassemia)
- EBI: Pathogenic (in Louisville)
- UniProt: Pathogenic (in Louisville)
- Structural context available
- Cited in: A new Spanish family with Hb Louisville. (PMID 2705488)
- Cited in: Hemoglobin Louisville (beta-42 (CD1) phe-leu): an unstable variant causing mild hemolytic anemia. (PMID 5096522)