P15T (p.Pro15Thr) variant of CEP290 (Centrosomal protein of 290 kDa)
P15T (p.Pro15Thr) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
P15T (p.Pro15Thr) variant details
- p.Pro15Thr
- TOPMed rs1425716932
- gnomAD rs1425716932
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.44
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available