I5R (p.Ile5Arg) variant of CEP290 (Centrosomal protein of 290 kDa)
I5R (p.Ile5Arg) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
I5R (p.Ile5Arg) variant details
- p.Ile5Arg
- rs1434632102
- ClinGen CA385990527
- ClinVar RCV003889641
- Ensembl rs1434632102
- Uncertain significance
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.29
- CADD 26.20
- PolyPhen-2 0.56
- SIFT 0.00
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available