L4M (p.Leu4Met) variant of HBB (Hemoglobin subunit beta)
L4M (p.Leu4Met) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
L4M (p.Leu4Met) variant details
- p.Leu4Met
- rs34126315
- ClinGen CA217115588
- ClinVar RCV000780309
- ClinVar RCV001272130
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.31
- MetaLR 0.68
- MetaSVM 0.10
- CADD 21.70
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)
- Cited in: Beta-Thalassemia. (PMID 20301599)