V47A (p.Val47Ala) variant of TARDBP (TAR DNA-binding protein 43)
V47A (p.Val47Ala) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V47A (p.Val47Ala) variant details
- p.Val47Ala
- rs1643464134
- gnomAD 1-11013867-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.24
- MetaLR 0.38
- MetaSVM -0.52
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.72
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score 0.0104
- Literature evidence available