C939Y (p.Cys939Tyr) variant of CRB1 (Protein crumbs homolog 1)
C939Y (p.Cys939Tyr) 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 Leber congenital amaurosis 8; Retinitis pigmentosa 12; Pigmented paravenous reti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
C939Y (p.Cys939Tyr) variant details
- p.Cys939Tyr
- rs1411345985
- UniProt VAR 067147
- TOPMed rs1411345985
- gnomAD rs1411345985
- Conflicting interpretations
- Leber congenital amaurosis 8; Retinitis pigmentosa 12; Pigmented paravenous reti
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.86
- MetaLR 0.90
- MetaSVM 1.00
- CADD 24.80
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Leber congenital amaurosis 8; Retinitis pigmentosa 12; Pigmented)
- EBI: Pathogenic (in LCA8)
- UniProt: Pathogenic (in LCA8)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide… (PMID 18055821)
- Cited in: Mutations in the CRB1 gene cause Leber congenital amaurosis. (PMID 11231775)