C1218F (p.Cys1218Phe) variant of CRB1 (Protein crumbs homolog 1)
C1218F (p.Cys1218Phe) 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 Retinitis pigmentosa 12; Retinal dystrophy; 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.
C1218F (p.Cys1218Phe) variant details
- p.Cys1218Phe
- rs1450635782
- ClinGen CA344050252
- ClinVar RCV001075199
- ClinVar RCV001862600
- Pathogenic/Likely pathogenic
- Retinitis pigmentosa 12; Retinal dystrophy; 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 (Retinitis pigmentosa 12; Retinal dystrophy; Leber congenital ama)
- EBI: Pathogenic (in LCA8)
- UniProt: Pathogenic (in LCA8)
- Structural context available
- Cited in: Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. (PMID 12700176)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)