C195F (p.Cys195Phe) variant of CRB1 (Protein crumbs homolog 1)
C195F (p.Cys195Phe) 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 Macular dystrophy; Retinal dystrophy; Leber congenital amaurosis 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
C195F (p.Cys195Phe) variant details
- p.Cys195Phe
- rs764256655
- ClinGen CA1311659
- ClinVar RCV000255600
- ClinVar RCV000656138
- Pathogenic/Likely pathogenic
- Macular dystrophy; Retinal dystrophy; Leber congenital amaurosis 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.95
- MetaLR 1.00
- MetaSVM 1.39
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Macular dystrophy; Retinal dystrophy; Leber congenital amaurosis)
- EBI: Pathogenic (in RP12)
- UniProt: Pathogenic (in RP12)
- Population evidence available
- Structural context available
- Cited in: CRB1 mutation spectrum in inherited retinal dystrophies. (PMID 15459956)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)