S20A (p.Ser20Ala) variant of TARDBP (TAR DNA-binding protein 43)
S20A (p.Ser20Ala) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S20A (p.Ser20Ala) variant details
- p.Ser20Ala
- rs1643463035
- gnomAD 1-11013785-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.26
- MetaLR 0.31
- MetaSVM -0.64
- CADD 21.90
- SIFT 0.37
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.4
- Literature evidence available