R44K (p.Arg44Lys) variant of TARDBP (TAR DNA-binding protein 43)
R44K (p.Arg44Lys) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R44K (p.Arg44Lys) variant details
- p.Arg44Lys
- gnomAD 1-11013858-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.53
- MetaLR 0.46
- MetaSVM -0.38
- CADD 23.90
- PolyPhen-2 0.03
- SIFT 0.12
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.448
- Literature evidence available