R142L (p.Arg142Leu) variant of HBA1 (Hemoglobin subunit alpha)
R142L (p.Arg142Leu) 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 LEGNANO; Erythrocytosis, familial, 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
R142L (p.Arg142Leu) variant details
- p.Arg142Leu
- rs33935328
- ClinGen CA125809
- ClinVar RCV000017093
- ClinVar RCV000641177
- Pathogenic; other
- HEMOGLOBIN LEGNANO; Erythrocytosis, familial, 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 0.87
- SIFT 0.00
- MutPred 0.80
- ClinVar: Pathogenic; other (HEMOGLOBIN LEGNANO; Erythrocytosis, familial, 7)
- EBI: Pathogenic (in Legnano)
- UniProt: Pathogenic (in Legnano)
- Structural context available
- Cited in: Hemoglobin Legnano (alpha2 141 (HC3) Arg replaced by Leu beta2): a new abnormal human hemoglobin with high oxygen… (PMID 701083)
- Cited in: Hemoglobin Legnano (alpha 2 141 (HC3) Arg leads to Leu beta2) a new high oxygen affinity variant. Functional and… (PMID 7462179)