D128N (p.Asp128Asn) variant of CEP290 (Centrosomal protein of 290 kDa)
D128N (p.Asp128Asn) 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 0.47 / 1. The record also includes population frequency data and structural context.
D128N (p.Asp128Asn) variant details
- p.Asp128Asn
- ExAC rs755112866
- TOPMed rs755112866
- gnomAD rs755112866
- Uncertain significance
- CEP290-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.21
- AlphaMissense 0.14
- MetaLR 0.63
- MetaSVM 0.43
- CADD 25.60
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (CEP290-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available