D66E (p.Asp66Glu) variant of CRB1 (Protein crumbs homolog 1)
D66E (p.Asp66Glu) in CRB1 (Protein crumbs homolog 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D66E (p.Asp66Glu) variant details
- p.Asp66Glu
- rs1658656188
- gnomAD 1-197328543-C-CAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 23.40
- Population evidence available
- Structural context available
- Literature evidence available