S12C (p.Ser12Cys) variant of TBK1 (Q9UHD2)
S12C (p.Ser12Cys) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S12C (p.Ser12Cys) variant details
- p.Ser12Cys
- ExAC rs779634532
- gnomAD rs779634532
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.18
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available