C480S (p.Cys480Ser) variant of CRB1 (Protein crumbs homolog 1)
C480S (p.Cys480Ser) 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 Retinitis pigmentosa 12; Leber congenital amaurosis 8. 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.
C480S (p.Cys480Ser) variant details
- p.Cys480Ser
- rs62636265
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10095
- ClinGen CA344030908
- Pathogenic/Likely pathogenic
- Retinitis pigmentosa 12; Leber congenital amaurosis 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.91
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinitis pigmentosa 12; Leber congenital amaurosis 8)
- EBI: Pathogenic (in LCA8)
- UniProt: Pathogenic (in LCA8)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)