A20E (p.Ala20Glu) variant of HBA1 (Hemoglobin subunit alpha)
A20E (p.Ala20Glu) 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 J (TASHIKUERGAN). The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
A20E (p.Ala20Glu) variant details
- p.Ala20Glu
- rs35628685
- ClinGen CA125789
- ClinVar RCV000017074
- UniProt VAR 002738
- other
- HEMOGLOBIN J (TASHIKUERGAN)
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- AlphaMissense 0.11
- MetaLR 0.69
- MetaSVM 0.09
- SIFT 0.03
- MutPred 0.18
- ClinVar: other (HEMOGLOBIN J (TASHIKUERGAN))
- EBI: Benign (in J-Tashikuergan)
- UniProt: Benign (in J-Tashikuergan)
- Structural context available
- Cited in: Hb Guangzhou-Hangzhou or alpha 2(64)(E13)Asp----Gly beta 2 observed in members of a Chinese family living in Xinjiang. (PMID 2283298)
- Cited in: A new fast-moving hemoglobin variant, Hb J-Tashikuergan alpha 19(AB1) Ala----Glu. (PMID 6548207)