G69E (p.Gly69Glu) variant of C9ORF72 (Q96LT7)
G69E (p.Gly69Glu) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
G69E (p.Gly69Glu) variant details
- p.Gly69Glu
- 1000Genomes rs575487786
- TOPMed rs575487786
- gnomAD rs575487786
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.41
- CADD 25.70
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available