L150F (p.Leu150Phe) variant of CEP290 (Centrosomal protein of 290 kDa)
L150F (p.Leu150Phe) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L150F (p.Leu150Phe) variant details
- p.Leu150Phe
- rs1162631374
- ClinGen CA385986683
- ClinVar RCV002780946
- ClinVar RCV004733529
- Uncertain significance
- Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.17
- CADD 29.10
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)