C50S (p.Cys50Ser) variant of TARDBP (TAR DNA-binding protein 43)
C50S (p.Cys50Ser) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C50S (p.Cys50Ser) variant details
- p.Cys50Ser
- rs953145872
- gnomAD 1-11013876-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.33
- MetaLR 0.36
- MetaSVM -0.56
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.48
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.761
- Literature evidence available