K75E (p.Lys75Glu) variant of CEP290 (Centrosomal protein of 290 kDa)
K75E (p.Lys75Glu) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of CEP290-related ciliopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K75E (p.Lys75Glu) variant details
- p.Lys75Glu
- rs779010679
- ClinGen CA6712876
- cosmic curated COSV57125
- ClinVar RCV000988892
- Likely pathogenic
- CEP290-related ciliopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.25
- CADD 23.80
- PolyPhen-2 0.49
- SIFT 0.09
- ClinVar: Likely pathogenic (CEP290-related ciliopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Joubert Syndrome. (PMID 20301500)