S48S (p.Ser48Ser) variant of TARDBP (TAR DNA-binding protein 43)
S48S (p.Ser48Ser) in TARDBP (TAR DNA-binding protein 43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S48S (p.Ser48Ser) variant details
- p.Ser48Ser
- rs1237709070
- gnomAD 1-11013871-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.137
- CADD 8.61
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.0064
- Literature evidence available