S48C (p.Ser48Cys) variant of TARDBP (TAR DNA-binding protein 43)
S48C (p.Ser48Cys) 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.
S48C (p.Ser48Cys) variant details
- p.Ser48Cys
- gnomAD 1-11013870-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.64
- MetaLR 0.68
- MetaSVM 0.47
- CADD 28.10
- PolyPhen-2 0.88
- SIFT 0.00
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.0064
- Literature evidence available