H21R (p.His21Arg) variant of HBA1 (Hemoglobin subunit alpha)
H21R (p.His21Arg) 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 HOBART. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
H21R (p.His21Arg) variant details
- p.His21Arg
- rs33943087
- ClinGen CA125755
- ClinVar RCV000017049
- UniProt VAR 002740
- other
- HEMOGLOBIN HOBART
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- AlphaMissense 0.25
- MetaLR 0.85
- MetaSVM 0.87
- SIFT 0.00
- MutPred 0.74
- ClinVar: other (HEMOGLOBIN HOBART)
- EBI: Benign (in Hobart)
- UniProt: Benign (in Hobart)
- Structural context available
- Cited in: Hemoglobin Hobart or alpha 20(Bl)His----Arg: a new alpha chain hemoglobin variant. (PMID 3654264)