E28D (p.Glu28Asp) variant of HBA1 (Hemoglobin subunit alpha)
E28D (p.Glu28Asp) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E28D (p.Glu28Asp) variant details
- p.Glu28Asp
- rs281865556
- ClinGen CA276414478
- ClinVar RCV000759058
- UniProt VAR 002748
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- AlphaMissense 0.37
- MetaLR 0.68
- MetaSVM 0.08
- SIFT 0.01
- MutPred 0.98
- ClinVar: Uncertain significance (not specified)
- EBI: Benign (in Hekinan)
- UniProt: Benign (in Hekinan)
- Population evidence available
- Structural context available
- Cited in: Two cases of compound heterozygosity for Hb Hekinan [alpha27(B8)Glu-->Asp (alpha1)] and alpha-thalassemia in Thailand. (PMID 15182057)
- Cited in: Hb Hekinan observed in three Chinese from Macau; identification of the GAG----GAT mutation in the alpha 1-globin gene. (PMID 1983218)