C67Y (p.Cys67Tyr) variant of CRB1 (Protein crumbs homolog 1)
C67Y (p.Cys67Tyr) 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 not provided; Retinitis pigmentosa 12; Leber congenital amaurosis 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
C67Y (p.Cys67Tyr) variant details
- p.Cys67Tyr
- ExAC rs749112809
- TOPMed rs749112809
- gnomAD rs749112809
- Conflicting interpretations
- not provided; Retinitis pigmentosa 12; Leber congenital amaurosis 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.76
- MetaLR 0.94
- MetaSVM 1.09
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Retinitis pigmentosa 12; Leber congenital amaurosi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available