C394Y (p.Cys394Tyr) variant of CRB1 (Protein crumbs homolog 1)
C394Y (p.Cys394Tyr) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinal dystrophy; Leber congenital amaurosis 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
C394Y (p.Cys394Tyr) variant details
- p.Cys394Tyr
- rs1664277152
- ClinGen CA344028001
- ClinVar RCV001074018
- ClinVar RCV005866794
- Conflicting interpretations
- Retinal dystrophy; Leber congenital amaurosis 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.92
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Retinal dystrophy; Leber congenital amaurosis 8)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)