V27* (p.Val27Ter) variant of BAK1 (Q16611)
V27* (p.Val27Ter) in BAK1 (Q16611) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
V27* (p.Val27Ter) variant details
- p.Val27Ter
- gnomAD 6-33575919-AC-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available