A38A (p.Ala38Ala) variant of TARDBP (TAR DNA-binding protein 43)
A38A (p.Ala38Ala) in TARDBP (TAR DNA-binding protein 43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A38A (p.Ala38Ala) variant details
- p.Ala38Ala
- rs535276506
- gnomAD 1-11013841-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0905
- CADD 1.81
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.0106
- Literature evidence available