L805P (p.Leu805Pro) variant of CEP290 (Centrosomal protein of 290 kDa)
L805P (p.Leu805Pro) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of CEP290-related ciliopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L805P (p.Leu805Pro) variant details
- p.Leu805Pro
- rs762633090
- ClinGen CA6712335
- ClinVar RCV001075311
- ClinVar RCV001243657
- Likely pathogenic
- CEP290-related ciliopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.16
- CADD 26.50
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely pathogenic (CEP290-related ciliopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)