C1218Y (p.Cys1218Tyr) variant of CRB1 (Protein crumbs homolog 1)
C1218Y (p.Cys1218Tyr) 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; Retinitis pigmentosa 12; Leber congenital amaurosis 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
C1218Y (p.Cys1218Tyr) variant details
- p.Cys1218Tyr
- rs1450635782
- ClinGen CA344050247
- ClinVar RCV000986496
- ClinVar RCV001726405
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Retinitis pigmentosa 12; Leber congenital ama)
- EBI: Pathogenic (in LCA8)
- UniProt: Pathogenic (in LCA8)
- 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)