R140W (p.Arg140Trp) variant of C9ORF72 (Q96LT7)
R140W (p.Arg140Trp) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R140W (p.Arg140Trp) variant details
- p.Arg140Trp
- cosmic curated COSV10593
- ExAC rs756687033
- TOPMed rs756687033
- gnomAD rs756687033
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.28
- CADD 28.20
- PolyPhen-2 0.93
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available