N85K (p.Asn85Lys) variant of CEP290 (Centrosomal protein of 290 kDa)
N85K (p.Asn85Lys) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
N85K (p.Asn85Lys) variant details
- p.Asn85Lys
- rs1490527042
- ClinGen CA385988900
- ClinVar RCV003442453
- TOPMed rs1490527042
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.10
- CADD 17.10
- PolyPhen-2 0.08
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00022)
- Structural context available