C50Y (p.Cys50Tyr) variant of TARDBP (TAR DNA-binding protein 43)
C50Y (p.Cys50Tyr) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C50Y (p.Cys50Tyr) variant details
- p.Cys50Tyr
- gnomAD 1-11013876-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.77
- MetaLR 0.59
- MetaSVM 0.22
- CADD 29.50
- PolyPhen-2 0.63
- SIFT 0.15
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.761
- Literature evidence available