N4T (p.Asn4Thr) variant of CEP290 (Centrosomal protein of 290 kDa)
N4T (p.Asn4Thr) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
N4T (p.Asn4Thr) variant details
- p.Asn4Thr
- ExAC rs770326046
- TOPMed rs770326046
- gnomAD rs770326046
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.11
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available