N4K (p.Asn4Lys) variant of CEP290 (Centrosomal protein of 290 kDa)
N4K (p.Asn4Lys) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
N4K (p.Asn4Lys) variant details
- p.Asn4Lys
- ExAC rs748657371
- TOPMed rs748657371
- gnomAD rs748657371
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.05
- CADD 16.30
- PolyPhen-2 0.02
- SIFT 0.52
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available