C45* (p.Cys45Ter) variant of CRB1 (Protein crumbs homolog 1)
C45* (p.Cys45Ter) in CRB1 (Protein crumbs homolog 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in RP12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
C45* (p.Cys45Ter) variant details
- p.Cys45Ter
- ESP rs145141811
- ExAC rs145141811
- TOPMed rs145141811
- gnomAD rs145141811
- Uncertain significance
- in RP12
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 25.60
- EBI: Variant of uncertain significance (in RP12)
- UniProt: Uncertain significance (in RP12)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available