D26N (p.Asp26Asn) variant of CEP290 (Centrosomal protein of 290 kDa)
D26N (p.Asp26Asn) 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 CEP290-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D26N (p.Asp26Asn) variant details
- p.Asp26Asn
- rs2501863127
- ClinGen CA385990210
- ClinVar RCV004528720
- Uncertain significance
- CEP290-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.12
- CADD 23.50
- PolyPhen-2 0.10
- SIFT 0.04
- ClinVar: Uncertain significance (CEP290-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available