M134V (p.Met134Val) variant of CEP290 (Centrosomal protein of 290 kDa)
M134V (p.Met134Val) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
M134V (p.Met134Val) variant details
- p.Met134Val
- gnomAD rs1469416559
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.11
- CADD 15.00
- PolyPhen-2 0.03
- SIFT 0.15
- Population evidence available
- Structural context available