R25S (p.Arg25Ser) variant of TBK1 (Q9UHD2)
R25S (p.Arg25Ser) in TBK1 (Q9UHD2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R25S (p.Arg25Ser) variant details
- p.Arg25Ser
- rs1279619378
- gnomAD 12-64455939-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.482
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available