E11G (p.Glu11Gly) variant of TARDBP (TAR DNA-binding protein 43)
E11G (p.Glu11Gly) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E11G (p.Glu11Gly) variant details
- p.Glu11Gly
- gnomAD 1-11013759-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.52
- MetaLR 0.76
- MetaSVM 0.65
- CADD 32.00
- PolyPhen-2 0.57
- SIFT 0.00
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.159
- Literature evidence available