R55W (p.Arg55Trp) variant of TARDBP (TAR DNA-binding protein 43)
R55W (p.Arg55Trp) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R55W (p.Arg55Trp) variant details
- p.Arg55Trp
- gnomAD 1-11013890-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.86
- MetaLR 0.78
- MetaSVM 0.71
- CADD 32.00
- PolyPhen-2 0.92
- SIFT 0.07
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.793
- Literature evidence available