R55R (p.Arg55Arg) variant of TARDBP (TAR DNA-binding protein 43)
R55R (p.Arg55Arg) in TARDBP (TAR DNA-binding protein 43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R55R (p.Arg55Arg) variant details
- p.Arg55Arg
- rs756772204
- gnomAD 1-11013892-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.121
- CADD 6.18
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.793
- Literature evidence available