S25F (p.Ser25Phe) variant of CRB1 (Protein crumbs homolog 1)
S25F (p.Ser25Phe) in CRB1 (Protein crumbs homolog 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S25F (p.Ser25Phe) variant details
- p.Ser25Phe
- rs1171237660
- gnomAD 1-197328424-TCC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.351
- CADD 24.90
- Population evidence available
- Structural context available
- Literature evidence available