P1381L (p.Pro1381Leu) variant of CRB1 (Protein crumbs homolog 1)
P1381L (p.Pro1381Leu) 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 Retinitis pigmentosa 12; Leber congenital amaurosis 8; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
P1381L (p.Pro1381Leu) variant details
- p.Pro1381Leu
- rs1667264651
- ClinGen CA344035786
- ClinVar RCV001250641
- ClinVar RCV001879783
- Pathogenic
- Retinitis pigmentosa 12; Leber congenital amaurosis 8; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.70
- MetaLR 0.85
- MetaSVM 0.89
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Retinitis pigmentosa 12; Leber congenital amaurosis 8; 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: Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1. (PMID 20956273)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)