P38R (p.Pro38Arg) variant of HBA1 (Hemoglobin subunit alpha)
P38R (p.Pro38Arg) 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 BOURMEDES. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
P38R (p.Pro38Arg) variant details
- p.Pro38Arg
- rs35776155
- ClinGen CA125686
- ClinVar RCV000016998
- Ensembl rs35776155
- other
- HEMOGLOBIN BOURMEDES
- Missense
- Variant Prioritization Score for Impact Estimate 0.965
- AlphaMissense 0.93
- MetaLR 0.97
- MetaSVM 1.09
- SIFT 0.00
- MutPred 0.94
- ClinVar: other (HEMOGLOBIN BOURMEDES)
- EBI: Benign (in Bourmedes)
- UniProt: Benign (in Bourmedes)
- Structural context available
- Cited in: [Hemoglobin Boumerdès alpha 2(37) (C2) Pro----Arg beta 2: a new variant of the alpha chain associated with hemoglobin S… (PMID 3438164)