N42D (p.Asn42Asp) variant of TBK1 (Q9UHD2)
N42D (p.Asn42Asp) in TBK1 (Q9UHD2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
N42D (p.Asn42Asp) variant details
- p.Asn42Asp
- gnomAD 12-64460225-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.12
- CADD 22.30
- PolyPhen-2 0.08
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available