C152Y (p.Cys152Tyr) variant of CRB1 (Protein crumbs homolog 1)
C152Y (p.Cys152Tyr) 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 Retinal dystrophy; Leber congenital amaurosis; Leber congenital amaurosis 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
C152Y (p.Cys152Tyr) variant details
- p.Cys152Tyr
- rs1571848744
- ClinGen CA344085812
- ClinVar RCV001002988
- ClinVar RCV001074569
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Leber congenital amaurosis; Leber congenital amaurosis 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.86
- MetaLR 1.00
- MetaSVM 1.50
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Leber congenital amaurosis; Leber congenital)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)