C50F (p.Cys50Phe) variant of TARDBP (TAR DNA-binding protein 43)
C50F (p.Cys50Phe) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C50F (p.Cys50Phe) variant details
- p.Cys50Phe
- gnomAD 1-11013876-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.75
- MetaLR 0.57
- MetaSVM 0.22
- CADD 29.80
- PolyPhen-2 0.41
- SIFT 0.09
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.761
- Literature evidence available