K9* (p.Lys9Ter) variant of HADHB (P55084)
K9* (p.Lys9Ter) in HADHB (P55084) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
K9* (p.Lys9Ter) variant details
- p.Lys9Ter
- gnomAD 2-26254279-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.696
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available