R27I (p.Arg27Ile) variant of TBK1 (Q9UHD2)
R27I (p.Arg27Ile) 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 and structural context.
R27I (p.Arg27Ile) variant details
- p.Arg27Ile
- gnomAD rs1425135718
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.41
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available