N4D (p.Asn4Asp) variant of CEP290 (Centrosomal protein of 290 kDa)
N4D (p.Asn4Asp) 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 Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
N4D (p.Asn4Asp) variant details
- p.Asn4Asp
- rs997653455
- ClinGen CA241168932
- ClinVar RCV001916478
- ClinVar RCV004733414
- Conflicting interpretations
- Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.12
- CADD 22.20
- PolyPhen-2 0.02
- SIFT 0.35
- ClinVar: Conflicting classifications of pathogenicity (Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndro)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)