L71M (p.Leu71Met) variant of TARDBP (TAR DNA-binding protein 43)
L71M (p.Leu71Met) in TARDBP (TAR DNA-binding protein 43) is a missense 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.
L71M (p.Leu71Met) variant details
- p.Leu71Met
- rs748612906
- gnomAD 1-11013938-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.10
- MetaLR 0.41
- MetaSVM -0.24
- CADD 24.10
- PolyPhen-2 0.07
- SIFT 0.14
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.594
- Literature evidence available