E163G (p.Glu163Gly) variant of C9ORF72 (Q96LT7)
E163G (p.Glu163Gly) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E163G (p.Glu163Gly) variant details
- p.Glu163Gly
- gnomAD rs1819449241
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.14
- CADD 24.70
- PolyPhen-2 0.97
- SIFT 0.48
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available