N27D (p.Asn27Asp) variant of CEP290 (Centrosomal protein of 290 kDa)
N27D (p.Asn27Asp) 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 Senior-Loken syndrome 6; Leber congenital amaurosis 10; Meckel syndrome, type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
N27D (p.Asn27Asp) variant details
- p.Asn27Asp
- rs753760503
- ClinGen CA6712920
- ClinVar RCV001048254
- ClinVar RCV001832450
- Uncertain significance
- Senior-Loken syndrome 6; Leber congenital amaurosis 10; Meckel syndrome, type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.10
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.70
- ClinVar: Uncertain significance (Senior-Loken syndrome 6; Leber congenital amaurosis 10; Meckel s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Joubert Syndrome. (PMID 20301500)