E28V (p.Glu28Val) variant of HBA1 (Hemoglobin subunit alpha)
E28V (p.Glu28Val) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in Spanish town. The record also includes variant effect predictions, published literature, and structural context.
E28V (p.Glu28Val) variant details
- p.Glu28Val
- Ensembl rs33964507
- Benign
- in Spanish town
- Missense
- MetaLR 0.90
- MetaSVM 0.94
- SIFT 0.00
- EBI: Benign (in Spanish town)
- UniProt: Benign (in Spanish town)
- Structural context available
- Cited in: Haemoglobin Spanish Town alpha27 Glu replaced by Val (B8). (PMID 1268216)
- Cited in: Locus assignment of two alpha-globin structural mutants from the Caribbean basin: alpha Fort de France (alpha 45 Arg)… (PMID 2752146)