I5M (p.Ile5Met) variant of CEP290 (Centrosomal protein of 290 kDa)
I5M (p.Ile5Met) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Leber congenital amaurosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
I5M (p.Ile5Met) variant details
- p.Ile5Met
- Ensembl rs929739343
- Uncertain significance
- Leber congenital amaurosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.16
- CADD 23.40
- PolyPhen-2 0.33
- SIFT 0.01
- ClinVar: Uncertain significance (Leber congenital amaurosis)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available