L69F (p.Leu69Phe) variant of HBB (Hemoglobin subunit beta)
L69F (p.Leu69Phe) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of METHEMOGLOBINEMIA, BETA TYPE; Dominant beta-thalassemia; Erythrocytosis, familia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
L69F (p.Leu69Phe) variant details
- p.Leu69Phe
- rs33961459
- ClinGen CA125530
- ClinVar RCV000016879
- ClinVar RCV000016880
- other
- METHEMOGLOBINEMIA, BETA TYPE; Dominant beta-thalassemia; Erythrocytosis, familia
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- ESM-1b 1.00
- AlphaMissense 0.71
- ClinVar: other (HEMOGLOBIN JAMAICA PLAIN)
- EBI: Pathogenic (in Mizuho)
- UniProt: Pathogenic (in Mizuho)
- Structural context available
- Cited in: Hemoglobin Jamaica plain--a sickling hemoglobin with reduced oxygen affinity. (PMID 15470216)
- Cited in: Molecular analysis of the beta-thalassemia phenotype associated with inheritance of hemoglobin E (alpha 2 beta2(26)Glu… (PMID 6166632)