R32S (p.Arg32Ser) variant of HBA1 (Hemoglobin subunit alpha)
R32S (p.Arg32Ser) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in Prato. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
R32S (p.Arg32Ser) variant details
- p.Arg32Ser
- rs111033606
- TOPMed rs111033606
- ClinVar RCV000016967
- UniProt VAR 002752
- Pathogenic
- in Prato
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 0.81
- SIFT 0.00
- MutPred 0.95
- EBI: Pathogenic (in Prato)
- UniProt: Pathogenic (in Prato)
- Structural context available
- Cited in: Hb Prato [alpha31(B12)Arg --> Ser (A2)] and alpha-thalassemia in a Taiwanese. (PMID 12603094)
- Cited in: HB Prato [alpha 31(B12)Arg----Ser] in a Calabrian family. (PMID 1517104)