D14N (p.Asp14Asn) variant of CEP290 (Centrosomal protein of 290 kDa)
D14N (p.Asp14Asn) 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 Nephronophthisis; Meckel-Gruber syndrome; Joubert syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
D14N (p.Asp14Asn) variant details
- p.Asp14Asn
- rs769179397
- ClinGen CA6712928
- ClinVar RCV001973404
- ExAC rs769179397
- Uncertain significance
- Nephronophthisis; Meckel-Gruber syndrome; Joubert syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.25
- CADD 24.00
- PolyPhen-2 0.04
- SIFT 0.05
- ClinVar: Uncertain significance (Nephronophthisis; Meckel-Gruber syndrome; Joubert syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)