E17E (p.Glu17Glu) variant of TARDBP (TAR DNA-binding protein 43)
E17E (p.Glu17Glu) in TARDBP (TAR DNA-binding protein 43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E17E (p.Glu17Glu) variant details
- p.Glu17Glu
- gnomAD 1-11013778-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.166
- CADD 12.80
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.579
- Literature evidence available