L33R (p.Leu33Arg) variant of HBB (Hemoglobin subunit beta)
L33R (p.Leu33Arg) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN CASTILLA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
L33R (p.Leu33Arg) variant details
- p.Leu33Arg
- rs33948578
- ClinGen CA124785
- ClinVar RCV000016295
- UniProt VAR 002916
- other
- HEMOGLOBIN CASTILLA
- Missense
- Variant Prioritization Score for Impact Estimate 0.988
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: other (HEMOGLOBIN CASTILLA)
- EBI: Pathogenic (in Castilla)
- UniProt: Pathogenic (in Castilla)
- Structural context available
- Cited in: Hemoglobin Castilla beta 32 (B14) Leu leads to Arg; a new unstable variant producing severe hemolytic disease. (PMID 1225574)
- Cited in: Hb Castilla [beta32(B14)Leu --> Arg] caused by a de novo mutation. (PMID 14649317)