C1294Y (p.Cys1294Tyr) variant of CRB1 (Protein crumbs homolog 1)
C1294Y (p.Cys1294Tyr) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cone-rod dystrophy; Leber congenital amaurosis 8; Retinitis pigmentosa 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
C1294Y (p.Cys1294Tyr) variant details
- p.Cys1294Tyr
- rs754575460
- ClinGen CA1312440
- ClinVar RCV001725800
- ClinVar RCV002539755
- Pathogenic/Likely pathogenic
- Cone-rod dystrophy; Leber congenital amaurosis 8; Retinitis pigmentosa 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.98
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cone-rod dystrophy; Leber congenital amaurosis 8; Retinitis pigm)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available
- Cited in: Cone rod dystrophies. (PMID 17270046)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)