E17D (p.Glu17Asp) variant of TARDBP (TAR DNA-binding protein 43)
E17D (p.Glu17Asp) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E17D (p.Glu17Asp) variant details
- p.Glu17Asp
- gnomAD 1-11013778-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.53
- MetaLR 0.71
- MetaSVM 0.49
- CADD 23.90
- PolyPhen-2 0.75
- SIFT 0.00
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.579
- Literature evidence available