S20L (p.Ser20Leu) variant of TARDBP (TAR DNA-binding protein 43)
S20L (p.Ser20Leu) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S20L (p.Ser20Leu) variant details
- p.Ser20Leu
- gnomAD 1-11013786-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.41
- MetaLR 0.37
- MetaSVM -0.55
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.40
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.4
- Literature evidence available