M1L (p.Met1Leu) variant of HBB (Hemoglobin subunit beta)
M1L (p.Met1Leu) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; beta Thalassemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs34563000
- ClinGen CA379275050
- ClinVar RCV001078260
- ClinVar RCV001811644
- Pathogenic/Likely pathogenic
- not provided; beta Thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- ESM-1b 0.23
- AlphaMissense 0.24
- ClinVar: Pathogenic/Likely pathogenic (not provided; beta Thalassemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)
- Cited in: Beta-Thalassemia. (PMID 20301599)