N45Y (p.Asn45Tyr) variant of TARDBP (TAR DNA-binding protein 43)
N45Y (p.Asn45Tyr) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N45Y (p.Asn45Tyr) variant details
- p.Asn45Tyr
- gnomAD 1-11013860-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.77
- MetaLR 0.71
- MetaSVM 0.57
- CADD 33.00
- PolyPhen-2 0.79
- SIFT 0.00
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score 0.0401
- Literature evidence available