L33P (p.Leu33Pro) variant of HBB (Hemoglobin subunit beta)
L33P (p.Leu33Pro) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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.
L33P (p.Leu33Pro) variant details
- p.Leu33Pro
- rs33948578
- ClinGen CA125096
- ClinVar RCV000016546
- ClinVar RCV000016547
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.994
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in Muscat)
- UniProt: Pathogenic (in Muscat)
- Structural context available
- Cited in: Haemoglobin Perth: beta-32 (B14) Leu leads to Pro, an unstable haemoglobin causing haemolysis. (PMID 4127713)
- Cited in: Hemoglobin Abraham Lincoln, beta32 (B14) leucine leads to proline. An unstable variant producing severe hemolytic… (PMID 4352462)