C438Y (p.Cys438Tyr) variant of CRB1 (Protein crumbs homolog 1)
C438Y (p.Cys438Tyr) 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 Retinitis pigmentosa 12; Pigmented paravenous retinochoroidal atrophy; Leber con. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
C438Y (p.Cys438Tyr) variant details
- p.Cys438Tyr
- rs1571522690
- ClinGen CA344030332
- ClinVar RCV000986487
- ClinVar RCV001759677
- Conflicting interpretations
- Retinitis pigmentosa 12; Pigmented paravenous retinochoroidal atrophy; Leber con
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.94
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Retinitis pigmentosa 12; Pigmented paravenous retinochoroidal at)
- EBI: Pathogenic (in LCA8)
- UniProt: Pathogenic (in LCA8)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. (PMID 17724218)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)