P1305L (p.Pro1305Leu) variant of CRB1 (Protein crumbs homolog 1)
P1305L (p.Pro1305Leu) 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; Leber congenital amaurosi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P1305L (p.Pro1305Leu) variant details
- p.Pro1305Leu
- rs1391910861
- ClinGen CA344052517
- ClinVar RCV002664202
- ClinVar RCV003475520
- Pathogenic/Likely pathogenic
- Leber congenital amaurosis 8; Retinitis pigmentosa 12; Leber congenital amaurosi
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.78
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Leber congenital amaurosis 8; Retinitis pigmentosa 12; Leber con)
- EBI: Pathogenic (in RP12)
- UniProt: Pathogenic (in RP12)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping. (PMID 22128245)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)