Q47* (p.Gln47Ter) variant of BAK1 (Q16611)
Q47* (p.Gln47Ter) in BAK1 (Q16611) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Q47* (p.Gln47Ter) variant details
- p.Gln47Ter
- gnomAD 6-33575860-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.748
- CADD 36.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available