E166G (p.Glu166Gly) variant of C9ORF72 (Q96LT7)
E166G (p.Glu166Gly) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E166G (p.Glu166Gly) variant details
- p.Glu166Gly
- TOPMed rs965154707
- gnomAD rs965154707
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.18
- CADD 26.20
- PolyPhen-2 0.97
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available