D13E (p.Asp13Glu) variant of TARDBP (TAR DNA-binding protein 43)
D13E (p.Asp13Glu) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D13E (p.Asp13Glu) variant details
- p.Asp13Glu
- gnomAD 1-11013766-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.09
- MetaLR 0.20
- MetaSVM -1.05
- CADD 4.94
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.0253
- Literature evidence available