Y141H (p.Tyr141His) variant of HBA1 (Hemoglobin subunit alpha)
Y141H (p.Tyr141His) 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 Erythrocytosis, familial, 7; HEMOGLOBIN ROUEN; HEMOGLOBIN ETHIOPIA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
Y141H (p.Tyr141His) variant details
- p.Tyr141His
- rs55870409
- ClinGen CA276415549
- ClinVar RCV003477259
- UniProt VAR 002851
- Pathogenic; other
- Erythrocytosis, familial, 7; HEMOGLOBIN ROUEN; HEMOGLOBIN ETHIOPIA
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.94
- MetaLR 0.92
- MetaSVM 1.03
- CADD 28.40
- SIFT 0.22
- ClinVar: Pathogenic; other (Erythrocytosis, familial, 7; HEMOGLOBIN ROUEN; HEMOGLOBIN ETHIOP)
- EBI: Likely pathogenic (in Rouen/Ethiopia)
- UniProt: Likely pathogenic (in Rouen/Ethiopia)
- Most common in the African/African-American population (allele frequency 2.6e-05)
- Structural context available
- Cited in: Hemoglobin Rouen (alpha-140 (HC2) Tyr-->His): alteration of the alpha-chain C-terminal region and moderate increase in… (PMID 1390944)
- Cited in: Hb Ethiopia or alpha 2(140)(HC2)Tyr----His beta 2. (PMID 1428951)