Y38* (p.Tyr38Ter) variant of BAK1 (Q16611)
Y38* (p.Tyr38Ter) in BAK1 (Q16611) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
Y38* (p.Tyr38Ter) variant details
- p.Tyr38Ter
- ESP rs372257626
- ExAC rs372257626
- TOPMed rs372257626
- gnomAD rs372257626
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.458
- CADD 36.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available