A27E (p.Ala27Glu) variant of HBA1 (Hemoglobin subunit alpha)
A27E (p.Ala27Glu) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN SHENYANG. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
A27E (p.Ala27Glu) variant details
- p.Ala27Glu
- rs281864822
- UniProt VAR 002747
- gnomAD rs281864822
- other
- HEMOGLOBIN SHENYANG
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- AlphaMissense 0.43
- MetaLR 0.59
- MetaSVM -0.17
- SIFT 0.00
- MutPred 0.91
- ClinVar: other (HEMOGLOBIN SHENYANG)
- EBI: Benign (in Shenyang)
- UniProt: Benign (in Shenyang)
- Structural context available
- Cited in: Hb Shenyang (alpha 26 (B7) Ala replaced by Glu): a new unstable variant found in China. (PMID 7161109)