E14E (p.Glu14Glu) variant of TARDBP (TAR DNA-binding protein 43)
E14E (p.Glu14Glu) in TARDBP (TAR DNA-binding protein 43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E14E (p.Glu14Glu) variant details
- p.Glu14Glu
- rs748698993
- gnomAD 1-11013769-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.144
- CADD 9.64
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.575
- Literature evidence available