R142C (p.Arg142Cys) variant of HBA1 (Hemoglobin subunit alpha)
R142C (p.Arg142Cys) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic; other in the context of HEMOGLOBIN NUNOBIKI; Erythrocytosis, familial, 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
R142C (p.Arg142Cys) variant details
- p.Arg142Cys
- rs33991910
- ClinGen CA125845
- ClinVar RCV000017126
- ClinVar RCV000641200
- Pathogenic; other
- HEMOGLOBIN NUNOBIKI; Erythrocytosis, familial, 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- AlphaMissense 0.97
- MetaLR 0.85
- MetaSVM 0.72
- SIFT 0.00
- MutPred 0.91
- ClinVar: Pathogenic; other (HEMOGLOBIN NUNOBIKI; Erythrocytosis, familial, 7)
- EBI: Pathogenic (in Nunobiki)
- UniProt: Pathogenic (in Nunobiki)
- Structural context available
- Cited in: A new hemoglobin variant, hemoglobin Nunobiki [alpha 141 (HC3) Arg----Cys]. Notable influence of the carboxy-terminal… (PMID 3973024)