I10V (p.Ile10Val) variant of CEP290 (Centrosomal protein of 290 kDa)
I10V (p.Ile10Val) 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 CEP290-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
I10V (p.Ile10Val) variant details
- p.Ile10Val
- gnomAD rs2040642730
- Uncertain significance
- CEP290-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.04
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Uncertain significance (CEP290-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available