H28R (p.His28Arg) variant of TBK1 (Q9UHD2)
H28R (p.His28Arg) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
H28R (p.His28Arg) variant details
- p.His28Arg
- TOPMed rs1347293163
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.30
- CADD 23.70
- PolyPhen-2 0.09
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available