V57A (p.Val57Ala) variant of TARDBP (TAR DNA-binding protein 43)
V57A (p.Val57Ala) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V57A (p.Val57Ala) variant details
- p.Val57Ala
- gnomAD 1-11013897-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.27
- MetaLR 0.40
- MetaSVM -0.66
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.19
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.804
- Literature evidence available