L1107P (p.Leu1107Pro) variant of CRB1 (Protein crumbs homolog 1)
L1107P (p.Leu1107Pro) 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 Leber congenital amaurosis 8; Retinitis pigmentosa 12; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
L1107P (p.Leu1107Pro) variant details
- p.Leu1107Pro
- rs62636276
- ClinGen CA228036
- ClinVar RCV000086342
- ClinVar RCV001075774
- Pathogenic/Likely pathogenic
- Leber congenital amaurosis 8; Retinitis pigmentosa 12; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.78
- AlphaMissense 0.89
- MetaLR 0.56
- MetaSVM 0.06
- CADD 28.20
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Leber congenital amaurosis 8; Retinitis pigmentosa 12; Retinal d)
- EBI: Pathogenic (in LCA8)
- UniProt: Pathogenic (in LCA8)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition… (PMID 15024725)
- Cited in: Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1. (PMID 20956273)