A25T (p.Ala25Thr) variant of CEP290 (Centrosomal protein of 290 kDa)
A25T (p.Ala25Thr) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- ExAC rs757196729
- gnomAD rs757196729
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.30
- CADD 26.40
- PolyPhen-2 0.84
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available