I14S (p.Ile14Ser) variant of TBK1 (Q9UHD2)
I14S (p.Ile14Ser) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
I14S (p.Ile14Ser) variant details
- p.Ile14Ser
- gnomAD 12-64455911-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.27
- CADD 33.00
- PolyPhen-2 0.48
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available