Y4Y (p.Tyr4Tyr) variant of TARDBP (TAR DNA-binding protein 43)
Y4Y (p.Tyr4Tyr) in TARDBP (TAR DNA-binding protein 43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y4Y (p.Tyr4Tyr) variant details
- p.Tyr4Tyr
- rs1179641429
- gnomAD 1-11013739-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.4
- CADD 11.90
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.918
- Literature evidence available