L71L (p.Leu71Leu) variant of TARDBP (TAR DNA-binding protein 43)
L71L (p.Leu71Leu) in TARDBP (TAR DNA-binding protein 43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L71L (p.Leu71Leu) variant details
- p.Leu71Leu
- gnomAD 1-11013940-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.31
- CADD 14.10
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.594
- Literature evidence available