G161R (p.Gly161Arg) variant of C9ORF72 (Q96LT7)
G161R (p.Gly161Arg) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G161R (p.Gly161Arg) variant details
- p.Gly161Arg
- ExAC rs781558367
- gnomAD rs781558367
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.25
- CADD 23.50
- PolyPhen-2 0.46
- SIFT 0.19
- Most common in the East Asian population (allele frequency 5.1e-05)
- Structural context available