E58G (p.Glu58Gly) variant of TARDBP (TAR DNA-binding protein 43)
E58G (p.Glu58Gly) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E58G (p.Glu58Gly) variant details
- p.Glu58Gly
- gnomAD 1-11013900-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.77
- MetaLR 0.57
- MetaSVM 0.01
- CADD 27.40
- PolyPhen-2 0.06
- SIFT 0.01
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.077
- Literature evidence available