G53V (p.Gly53Val) variant of TARDBP (TAR DNA-binding protein 43)
G53V (p.Gly53Val) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G53V (p.Gly53Val) variant details
- p.Gly53Val
- gnomAD 1-11013885-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.87
- MetaLR 0.78
- MetaSVM 0.71
- CADD 31.00
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.162
- Literature evidence available