M1V (p.Met1Val) variant of HBA1 (Hemoglobin subunit alpha)
M1V (p.Met1Val) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of alpha Thalassemia; Erythrocytosis, familial, 7; Heinz body anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs34220980
- ClinGen CA7770223
- ClinVar RCV003120274
- ClinVar RCV005021812
- Pathogenic
- alpha Thalassemia; Erythrocytosis, familial, 7; Heinz body anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- MetaLR 0.82
- MetaSVM 0.81
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic (alpha Thalassemia; Erythrocytosis, familial, 7; Heinz body anemi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: An alpha-globin gene initiation codon mutation in a black family with HbH disease. (PMID 3620699)
- Cited in: EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis… (PMID 25052315)