D10Y (p.Asp10Tyr) variant of TARDBP (TAR DNA-binding protein 43)
D10Y (p.Asp10Tyr) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D10Y (p.Asp10Tyr) variant details
- p.Asp10Tyr
- gnomAD 1-11013755-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.56
- MetaLR 0.75
- MetaSVM 0.65
- CADD 32.00
- PolyPhen-2 0.78
- SIFT 0.01
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.208
- Literature evidence available