G169R (p.Gly169Arg) variant of C9ORF72 (Q96LT7)
G169R (p.Gly169Arg) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G169R (p.Gly169Arg) variant details
- p.Gly169Arg
- ExAC rs763962885
- gnomAD rs763962885
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.35
- CADD 27.60
- PolyPhen-2 0.44
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.7e-06)
- Structural context available