I60T (p.Ile60Thr) variant of TARDBP (TAR DNA-binding protein 43)
I60T (p.Ile60Thr) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I60T (p.Ile60Thr) variant details
- p.Ile60Thr
- rs1643464740
- gnomAD 1-11013906-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.16
- MetaLR 0.50
- MetaSVM -0.26
- CADD 24.60
- PolyPhen-2 0.02
- SIFT 0.43
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.941
- Literature evidence available