T8S (p.Thr8Ser) variant of TARDBP (TAR DNA-binding protein 43)
T8S (p.Thr8Ser) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T8S (p.Thr8Ser) variant details
- p.Thr8Ser
- gnomAD 1-11013750-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.14
- MetaLR 0.25
- MetaSVM -0.60
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.38
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score 0.126
- Literature evidence available