R6R (p.Arg6Arg) variant of TARDBP (TAR DNA-binding protein 43)
R6R (p.Arg6Arg) in TARDBP (TAR DNA-binding protein 43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R6R (p.Arg6Arg) variant details
- p.Arg6Arg
- rs1570711928
- gnomAD 1-11013743-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.511
- CADD 15.90
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.0828
- Literature evidence available