C74* (p.Cys74Ter) variant of CRB1 (Protein crumbs homolog 1)
C74* (p.Cys74Ter) in CRB1 (Protein crumbs homolog 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
C74* (p.Cys74Ter) variant details
- p.Cys74Ter
- rs772819260
- ClinGen CA344085303
- ClinVar RCV003787130
- ExAC rs772819260
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.326
- CADD 25.40
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)