Y6* (p.Tyr6Ter) variant of HADHB (P55084)
Y6* (p.Tyr6Ter) in HADHB (P55084) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Y6* (p.Tyr6Ter) variant details
- p.Tyr6Ter
- gnomAD 2-26254272-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.258
- CADD 25.00
- Population evidence available
- Structural context available
- Literature evidence available