E16G (p.Glu16Gly) variant of C9ORF72 (Q96LT7)
E16G (p.Glu16Gly) 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.
E16G (p.Glu16Gly) variant details
- p.Glu16Gly
- gnomAD rs905778011
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.19
- CADD 24.60
- PolyPhen-2 0.33
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available