Q56L (p.Gln56Leu) variant of CEP290 (Centrosomal protein of 290 kDa)
Q56L (p.Gln56Leu) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Leber congenital amaurosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
Q56L (p.Gln56Leu) variant details
- p.Gln56Leu
- TOPMed rs1350378313
- gnomAD rs1350378313
- Uncertain significance
- Leber congenital amaurosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.59
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Leber congenital amaurosis)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00046)
- Structural context available