S2T (p.Ser2Thr) variant of TARDBP (TAR DNA-binding protein 43)
S2T (p.Ser2Thr) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S2T (p.Ser2Thr) variant details
- p.Ser2Thr
- gnomAD 1-11013731-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.07
- MetaLR 0.41
- MetaSVM -0.44
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.16
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.351
- Literature evidence available