D10E (p.Asp10Glu) variant of TARDBP (TAR DNA-binding protein 43)
D10E (p.Asp10Glu) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D10E (p.Asp10Glu) variant details
- p.Asp10Glu
- gnomAD 1-11013757-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.27
- MetaLR 0.35
- MetaSVM -0.79
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.50
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.208
- Literature evidence available