C27F (p.Cys27Phe) variant of CRB1 (Protein crumbs homolog 1)
C27F (p.Cys27Phe) 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; not provided; Retinitis pigmentosa 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
C27F (p.Cys27Phe) variant details
- p.Cys27Phe
- rs1460946384
- ClinGen CA344084973
- ClinVar RCV001257868
- ClinVar RCV003473841
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Retinitis pigmentosa 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.65
- MetaLR 0.83
- MetaSVM 0.75
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Retinitis pigmentosa 12)
- EBI: Pathogenic (in RP12)
- UniProt: Pathogenic (in RP12)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Molecular characterization of retinitis pigmentosa in Saudi Arabia. (PMID 19956407)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)