W16* (p.Trp16Ter) variant of HBB (Hemoglobin subunit beta)
W16* (p.Trp16Ter) in HBB (Hemoglobin subunit beta) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in Belfast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
W16* (p.Trp16Ter) variant details
- p.Trp16Ter
- rs34716011
- ClinGen CA217115390
- ClinVar RCV000508624
- ClinVar RCV000589075
- Pathogenic
- in Belfast
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.85
- CADD 36.00
- EBI: Pathogenic (in Belfast)
- UniProt: Pathogenic (in Belfast)
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: A novel beta zero-thalassaemia mutation (codon 15, TGG----TGA) is prevalent in a population of central Portugal. (PMID 1581247)
- Cited in: Beta-Thalassemia. (PMID 20301599)