R140L (p.Arg140Leu) variant of C9ORF72 (Q96LT7)
R140L (p.Arg140Leu) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R140L (p.Arg140Leu) variant details
- p.Arg140Leu
- ExAC rs781692000
- gnomAD rs781692000
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.36
- CADD 24.10
- PolyPhen-2 0.69
- SIFT 0.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available