M1T (p.Met1Thr) variant of HBA1 (Hemoglobin subunit alpha)
M1T (p.Met1Thr) 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; Heinz body anemia; Erythrocytosis, familial, 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs111033603
- ClinGen CA281645
- ClinVar RCV000016929
- ClinVar RCV003654177
- Pathogenic/Likely pathogenic
- alpha Thalassemia; Heinz body anemia; Erythrocytosis, familial, 7
- 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; Heinz body anemia; Erythrocytosis, familial,)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Initiation codon mutation as a cause of alpha thalassemia. (PMID 6490612)
- Cited in: Nondeletional alpha-thalassemia: first description of alpha Hph alpha and alpha Nco alpha mutations in a Spanish… (PMID 8756078)