I54T (p.Ile54Thr) variant of CEP290 (Centrosomal protein of 290 kDa)
I54T (p.Ile54Thr) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I54T (p.Ile54Thr) variant details
- p.Ile54Thr
- ExAC rs767353670
- gnomAD rs767353670
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.35
- CADD 23.80
- PolyPhen-2 0.16
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available