M1R (p.Met1Arg) variant of HBA1 (Hemoglobin subunit alpha)
M1R (p.Met1Arg) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of alpha Thalassemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs111033603
- ClinGen CA393992817
- ClinVar RCV004018237
- Pathogenic/Likely pathogenic
- alpha Thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- MetaLR 0.84
- MetaSVM 0.75
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic/Likely pathogenic (alpha Thalassemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)
- Cited in: Alpha-Thalassemia. (PMID 20301608)