R140Q (p.Arg140Gln) variant of C9ORF72 (Q96LT7)
R140Q (p.Arg140Gln) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R140Q (p.Arg140Gln) variant details
- p.Arg140Gln
- cosmic curated COSV66154
- ExAC rs781692000
- gnomAD rs781692000
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.25
- CADD 24.40
- PolyPhen-2 0.80
- SIFT 0.10
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available