I60V (p.Ile60Val) variant of TARDBP (TAR DNA-binding protein 43)
I60V (p.Ile60Val) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I60V (p.Ile60Val) variant details
- p.Ile60Val
- rs866353277
- gnomAD 1-11013905-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.08
- MetaLR 0.24
- MetaSVM -0.85
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.77
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.941
- Literature evidence available