E1572K (p.Glu1572Lys) variant of CEP290 (Centrosomal protein of 290 kDa)
E1572K (p.Glu1572Lys) 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 syndrome, type 6; Joubert syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
E1572K (p.Glu1572Lys) variant details
- p.Glu1572Lys
- rs1292516576
- ClinGen CA385994093
- ClinVar RCV001261602
- ClinVar RCV001261608
- Pathogenic/Likely pathogenic
- Meckel syndrome, type 6; Joubert syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.44
- MetaLR 0.81
- MetaSVM 0.49
- CADD 24.70
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Meckel syndrome, type 6; Joubert syndrome 5)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Meckel syndrome. (PMID 21368913)