D65V (p.Asp65Val) variant of TARDBP (TAR DNA-binding protein 43)
D65V (p.Asp65Val) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D65V (p.Asp65Val) variant details
- p.Asp65Val
- gnomAD 1-11013921-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.49
- MetaLR 0.81
- MetaSVM 0.77
- CADD 29.60
- PolyPhen-2 0.25
- SIFT 0.02
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.687
- Literature evidence available