L28L (p.Leu28Leu) variant of TARDBP (TAR DNA-binding protein 43)
L28L (p.Leu28Leu) in TARDBP (TAR DNA-binding protein 43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L28L (p.Leu28Leu) variant details
- p.Leu28Leu
- rs369718876
- gnomAD 1-11013811-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 13.00
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.312
- Literature evidence available