Q17R (p.Gln17Arg) variant of TBK1 (Q9UHD2)
Q17R (p.Gln17Arg) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
Q17R (p.Gln17Arg) variant details
- p.Gln17Arg
- ExAC rs747864223
- gnomAD rs747864223
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.31
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.05
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available