I5T (p.Ile5Thr) variant of CEP290 (Centrosomal protein of 290 kDa)
I5T (p.Ile5Thr) 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 Joubert syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
I5T (p.Ile5Thr) variant details
- p.Ile5Thr
- rs1434632102
- ClinGen CA385990528
- ClinVar RCV000988893
- Ensembl rs1434632102
- Likely pathogenic
- Joubert syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.26
- CADD 22.90
- PolyPhen-2 0.21
- SIFT 0.11
- ClinVar: Likely pathogenic (Joubert syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)