R42R (p.Arg42Arg) variant of TARDBP (TAR DNA-binding protein 43)
R42R (p.Arg42Arg) in TARDBP (TAR DNA-binding protein 43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R42R (p.Arg42Arg) variant details
- p.Arg42Arg
- gnomAD 1-11013853-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.417
- CADD 15.50
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.686
- Literature evidence available