W38* (p.Trp38Ter) variant of HBD (Hemoglobin subunit delta)
W38* (p.Trp38Ter) in HBD (Hemoglobin subunit delta) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. 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.
W38* (p.Trp38Ter) variant details
- p.Trp38Ter
- TOPMed rs1456294062
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.848
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A novel delta O-thalassemia mutation: TGG-->TAG (TRP-->STOP) at codon 37. (PMID 8118467)