I73N (p.Ile73Asn) variant of TBK1 (Q9UHD2)
I73N (p.Ile73Asn) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
I73N (p.Ile73Asn) variant details
- p.Ile73Asn
- gnomAD 12-64460319-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.59
- CADD 28.00
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available