Y4C (p.Tyr4Cys) variant of TARDBP (TAR DNA-binding protein 43)
Y4C (p.Tyr4Cys) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y4C (p.Tyr4Cys) variant details
- p.Tyr4Cys
- gnomAD 1-11013738-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.76
- MetaLR 0.78
- MetaSVM 0.73
- CADD 26.50
- PolyPhen-2 0.38
- SIFT 0.11
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.918
- Literature evidence available