A38S (p.Ala38Ser) variant of TARDBP (TAR DNA-binding protein 43)
A38S (p.Ala38Ser) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A38S (p.Ala38Ser) variant details
- p.Ala38Ser
- gnomAD 1-11013839-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.60
- MetaLR 0.56
- MetaSVM 0.00
- CADD 24.90
- PolyPhen-2 0.57
- SIFT 0.16
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.0106
- Literature evidence available