S2C (p.Ser2Cys) variant of TARDBP (TAR DNA-binding protein 43)
S2C (p.Ser2Cys) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S2C (p.Ser2Cys) variant details
- p.Ser2Cys
- gnomAD 1-11013732-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.29
- MetaLR 0.62
- MetaSVM 0.35
- CADD 28.20
- PolyPhen-2 0.63
- SIFT 0.02
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.351
- Literature evidence available