V37A (p.Val37Ala) variant of CEP290 (Centrosomal protein of 290 kDa)
V37A (p.Val37Ala) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V37A (p.Val37Ala) variant details
- p.Val37Ala
- gnomAD rs1378182544
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.15
- CADD 15.90
- PolyPhen-2 0.01
- SIFT 0.79
- Population evidence available
- Structural context available