W15* (p.Trp15Ter) variant of HBA1 (Hemoglobin subunit alpha)
W15* (p.Trp15Ter) 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 Evanston. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
W15* (p.Trp15Ter) variant details
- p.Trp15Ter
- rs63750367
- ClinGen CA393993038
- ClinVar RCV001810823
- Ensembl rs63750367
- Pathogenic
- in Evanston
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.64
- AlphaMissense 0.97
- MetaLR 0.94
- MetaSVM 1.05
- CADD 36.00
- SIFT 0.01
- MutPred 0.74
- EBI: Pathogenic (in Evanston)
- UniProt: Pathogenic (in Evanston)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available