M1K (p.Met1Lys) variant of CEP290 (Centrosomal protein of 290 kDa)
M1K (p.Met1Lys) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CEP290-related ciliopathy. The record also includes variant effect predictions, population frequency data, published literature, and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs368984997
- ClinGen CA6712933
- ClinVar RCV001091344
- ClinVar RCV001862693
- Pathogenic
- CEP290-related ciliopathy
- Missense
- MetaLR 0.82
- MetaSVM 0.82
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (CEP290-related ciliopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Joubert Syndrome. (PMID 20301500)