D16H (p.Asp16His) variant of CEP290 (Centrosomal protein of 290 kDa)
D16H (p.Asp16His) 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 Joubert syndrome; Nephronophthisis; Meckel-Gruber syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
D16H (p.Asp16His) variant details
- p.Asp16His
- rs2040641439
- ClinGen CA385990350
- ClinVar RCV002050132
- Ensembl rs2040641439
- Uncertain significance
- Joubert syndrome; Nephronophthisis; Meckel-Gruber syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- AlphaMissense 0.24
- MetaLR 0.71
- MetaSVM 0.46
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Uncertain significance (Joubert syndrome; Nephronophthisis; Meckel-Gruber syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)