P48T (p.Pro48Thr) variant of TBK1 (Q9UHD2)
P48T (p.Pro48Thr) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P48T (p.Pro48Thr) variant details
- p.Pro48Thr
- gnomAD 12-64460243-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.43
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available