S48F (p.Ser48Phe) variant of TARDBP (TAR DNA-binding protein 43)
S48F (p.Ser48Phe) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S48F (p.Ser48Phe) variant details
- p.Ser48Phe
- gnomAD 1-11013870-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.66
- MetaLR 0.61
- MetaSVM 0.31
- CADD 28.90
- PolyPhen-2 0.58
- SIFT 0.05
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.0064
- Literature evidence available