E166V (p.Glu166Val) variant of C9ORF72 (Q96LT7)
E166V (p.Glu166Val) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E166V (p.Glu166Val) variant details
- p.Glu166Val
- TOPMed rs965154707
- gnomAD rs965154707
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.15
- CADD 29.50
- PolyPhen-2 0.98
- SIFT 0.47
- Population evidence available
- Structural context available