G850S (p.Gly850Ser) variant of CRB1 (Protein crumbs homolog 1)
G850S (p.Gly850Ser) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Leber congenital amaurosis; Retinitis pigmentosa 12; Leber congenital amaurosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G850S (p.Gly850Ser) variant details
- p.Gly850Ser
- rs776591659
- ClinGen CA1312139
- NCI-TCGA Cosmic COSV6632
- NCI-TCGA Cosmic COSV6633
- Pathogenic
- Leber congenital amaurosis; Retinitis pigmentosa 12; Leber congenital amaurosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.96
- MetaLR 0.97
- MetaSVM 1.09
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Leber congenital amaurosis; Retinitis pigmentosa 12; Leber conge)
- EBI: Pathogenic (in RP12 and LCA8)
- UniProt: Pathogenic (in RP12 and LCA8)
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available
- Cited in: CRB1 mutation spectrum in inherited retinal dystrophies. (PMID 15459956)
- Cited in: Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. (PMID 20591486)