M1V (p.Met1Val) variant of HBB (Hemoglobin subunit beta)
M1V (p.Met1Val) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hemoglobinopathy; not provided; Dominant 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.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs34563000
- ClinGen CA217115654
- ClinVar RCV000507448
- ClinVar RCV000780324
- Pathogenic
- Hemoglobinopathy; not provided; Dominant beta-thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- ESM-1b 0.34
- AlphaMissense 0.16
- ClinVar: Pathogenic (Hemoglobinopathy; not provided; Dominant beta-thalassemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Beta-Thalassemia. (PMID 20301599)
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)