A149T (p.Ala149Thr) variant of CEP290 (Centrosomal protein of 290 kDa)
A149T (p.Ala149Thr) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A149T (p.Ala149Thr) variant details
- p.Ala149Thr
- Ensembl rs2040046847
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.18
- CADD 23.30
- PolyPhen-2 0.97
- SIFT 0.21
- Most common in the East Asian population (allele frequency 3e-05)
- Structural context available