A111D (p.Ala111Asp) variant of HBA1 (Hemoglobin subunit alpha)
A111D (p.Ala111Asp) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Erythrocytosis, familial, 7; Heinz body anemia; Hemoglobin H disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A111D (p.Ala111Asp) variant details
- p.Ala111Asp
- rs28928889
- UniProt VAR 002822
- Ensembl rs28928889
- Likely pathogenic
- Erythrocytosis, familial, 7; Heinz body anemia; Hemoglobin H disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- AlphaMissense 0.85
- MetaLR 0.85
- MetaSVM 0.80
- SIFT 0.00
- MutPred 0.76
- ClinVar: Likely pathogenic (Erythrocytosis, familial, 7; Heinz body anemia; Hemoglobin H dis)
- EBI: Benign (in Petah Tikva)
- UniProt: Benign (in Petah Tikva)
- Population evidence available
- Structural context available
- Cited in: Hemoglobin Petah Tikva (alpha 110 ala replaced by asp): a new unstable variant with alpha-thalassemia-like expression. (PMID 7470621)