R47S (p.Arg47Ser) variant of TBK1 (Q9UHD2)
R47S (p.Arg47Ser) in TBK1 (Q9UHD2) 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, published literature, and structural context.
R47S (p.Arg47Ser) variant details
- p.Arg47Ser
- gnomAD 12-64460240-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.23
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available