E9K (p.Glu9Lys) variant of TARDBP (TAR DNA-binding protein 43)
E9K (p.Glu9Lys) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E9K (p.Glu9Lys) variant details
- p.Glu9Lys
- rs1643462638
- gnomAD 1-11013752-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.50
- MetaLR 0.64
- MetaSVM 0.35
- CADD 24.70
- PolyPhen-2 0.15
- SIFT 0.11
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score 0.022
- Literature evidence available