L41I (p.Leu41Ile) variant of TARDBP (TAR DNA-binding protein 43)
L41I (p.Leu41Ile) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L41I (p.Leu41Ile) variant details
- p.Leu41Ile
- gnomAD 1-11013848-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.65
- MetaLR 0.80
- MetaSVM 0.78
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.239
- Literature evidence available