N115D (p.Asn115Asp) variant of CEP290 (Centrosomal protein of 290 kDa)
N115D (p.Asn115Asp) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Meckel syndrome, type 4; Joubert syndrome 5; Leber congenital amaurosis 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
N115D (p.Asn115Asp) variant details
- p.Asn115Asp
- rs140236736
- ClinGen CA246815
- ClinVar RCV000179537
- ClinVar RCV001085617
- Conflicting interpretations
- Meckel syndrome, type 4; Joubert syndrome 5; Leber congenital amaurosis 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.15
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Meckel syndrome, type 4; Joubert syndrome 5; Leber congenital am)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:HEZHEN population (allele frequency 0.062)
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Joubert Syndrome. (PMID 20301500)