Y25* (p.Tyr25Ter) variant of HBA1 (Hemoglobin subunit alpha)
Y25* (p.Tyr25Ter) in HBA1 (Hemoglobin subunit alpha) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in Luxembourg. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Y25* (p.Tyr25Ter) variant details
- p.Tyr25Ter
- ExAC rs750867079
- gnomAD rs750867079
- Pathogenic
- in Luxembourg
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- EBI: Pathogenic (in Luxembourg)
- UniProt: Pathogenic (in Luxembourg)
- Most common in the African/African-American population (allele frequency 0.00057)
- Structural context available