S2Y (p.Ser2Tyr) variant of TARDBP (TAR DNA-binding protein 43)
S2Y (p.Ser2Tyr) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S2Y (p.Ser2Tyr) variant details
- p.Ser2Tyr
- gnomAD 1-11013732-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.31
- MetaLR 0.50
- MetaSVM 0.11
- CADD 24.80
- PolyPhen-2 0.17
- SIFT 0.00
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.351
- Literature evidence available