Y43C (p.Tyr43Cys) variant of TARDBP (TAR DNA-binding protein 43)
Y43C (p.Tyr43Cys) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y43C (p.Tyr43Cys) variant details
- p.Tyr43Cys
- rs1239871361
- gnomAD 1-11013855-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.90
- MetaLR 0.78
- MetaSVM 0.73
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.08
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.177
- Literature evidence available