E58K (p.Glu58Lys) variant of TARDBP (TAR DNA-binding protein 43)
E58K (p.Glu58Lys) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E58K (p.Glu58Lys) variant details
- p.Glu58Lys
- gnomAD 1-11013899-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.55
- MetaLR 0.58
- MetaSVM 0.04
- CADD 26.10
- PolyPhen-2 0.03
- SIFT 0.07
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.077
- Literature evidence available