M1I (p.Met1Ile) variant of CEP290 (Centrosomal protein of 290 kDa)
M1I (p.Met1Ile) 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 Joubert syndrome 5; Leber congenital amaurosis 10; Senior-Loken syndrome 6. The record also includes variant effect predictions, population frequency data, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs773525033
- ClinGen CA6712932
- ClinVar RCV001956388
- ClinVar RCV005002725
- Pathogenic/Likely pathogenic
- Joubert syndrome 5; Leber congenital amaurosis 10; Senior-Loken syndrome 6
- Missense
- MetaLR 0.84
- MetaSVM 0.80
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.63
- ClinVar: Pathogenic/Likely pathogenic (Joubert syndrome 5; Leber congenital amaurosis 10; Senior-Loken)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Joubert Syndrome. (PMID 20301500)