V73A (p.Val73Ala) variant of CEP290 (Centrosomal protein of 290 kDa)
V73A (p.Val73Ala) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
V73A (p.Val73Ala) variant details
- p.Val73Ala
- TOPMed rs1361487879
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.27
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available