R142H (p.Arg142His) variant of HBA1 (Hemoglobin subunit alpha)
R142H (p.Arg142His) 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 SURESNES; Erythrocytosis, familial, 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R142H (p.Arg142His) variant details
- p.Arg142His
- rs33935328
- ClinGen CA125901
- ClinVar RCV000017164
- ClinVar RCV000641216
- Pathogenic; other
- HEMOGLOBIN SURESNES; Erythrocytosis, familial, 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.76
- MetaLR 0.85
- MetaSVM 0.69
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic; other (HEMOGLOBIN SURESNES; Erythrocytosis, familial, 7)
- EBI: Pathogenic (in Suresnes)
- UniProt: Pathogenic (in Suresnes)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Structural and functional studies of haemoglobin Suresnes or alpha2 141 (HC3) Arg replaced by His beta2, a new high… (PMID 11123)
- Cited in: Hemoglobin Suresnes in a Costa Rican woman of Spanish-Indian ancestry. (PMID 701092)