S17* (p.Ser17Ter) variant of CRB1 (Protein crumbs homolog 1)
S17* (p.Ser17Ter) in CRB1 (Protein crumbs homolog 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S17* (p.Ser17Ter) variant details
- p.Ser17Ter
- gnomAD 1-197268462-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.437
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available