M1V (p.Met1Val) variant of CEP290 (Centrosomal protein of 290 kDa)
M1V (p.Met1Val) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Meckel-Gruber syndrome; Joubert syndrome; Nephronophthisis. The record also includes variant effect predictions, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2040644756
- ClinGen CA385990599
- ClinVar RCV001091345
- ClinVar RCV002555951
- Pathogenic/Likely pathogenic
- Meckel-Gruber syndrome; Joubert syndrome; Nephronophthisis
- Missense
- MetaLR 0.82
- MetaSVM 0.82
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.61
- ClinVar: Pathogenic/Likely pathogenic (Meckel-Gruber syndrome; Joubert syndrome; Nephronophthisis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)