V66M (p.Val66Met) variant of CEP290 (Centrosomal protein of 290 kDa)
V66M (p.Val66Met) 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.
V66M (p.Val66Met) variant details
- p.Val66Met
- ExAC rs748129496
- gnomAD rs748129496
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.20
- CADD 25.40
- PolyPhen-2 0.68
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available