I20Y (p.Ile20Tyr) variant of CRB1 (Protein crumbs homolog 1)
I20Y (p.Ile20Tyr) in CRB1 (Protein crumbs homolog 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
I20Y (p.Ile20Tyr) variant details
- p.Ile20Tyr
- rs1343680080
- gnomAD 1-197268467-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.666
- CADD 27.30
- Population evidence available
- Structural context available
- Literature evidence available