V72A (p.Val72Ala) variant of TARDBP (TAR DNA-binding protein 43)
V72A (p.Val72Ala) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V72A (p.Val72Ala) variant details
- p.Val72Ala
- rs1228733743
- gnomAD 1-11013942-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.27
- MetaLR 0.57
- MetaSVM -0.09
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.0742
- Literature evidence available