T25M (p.Thr25Met) variant of TARDBP (TAR DNA-binding protein 43)
T25M (p.Thr25Met) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T25M (p.Thr25Met) variant details
- p.Thr25Met
- gnomAD 1-11013801-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.75
- MetaLR 0.78
- MetaSVM 0.72
- CADD 27.20
- PolyPhen-2 0.88
- SIFT 0.00
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.517
- Literature evidence available