A66T (p.Ala66Thr) variant of TARDBP (TAR DNA-binding protein 43)
A66T (p.Ala66Thr) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A66T (p.Ala66Thr) variant details
- p.Ala66Thr
- gnomAD 1-11013923-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.06
- MetaLR 0.73
- MetaSVM 0.08
- CADD 21.40
- PolyPhen-2 0.02
- SIFT 0.55
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.607
- Literature evidence available