W16* (p.Trp16Ter) variant of HBD (Hemoglobin subunit delta)
W16* (p.Trp16Ter) in HBD (Hemoglobin subunit delta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
W16* (p.Trp16Ter) variant details
- p.Trp16Ter
- TOPMed rs1847714495
- gnomAD rs1847714495
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.85
- CADD 36.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available