N12K (p.Asn12Lys) variant of TARDBP (TAR DNA-binding protein 43)
N12K (p.Asn12Lys) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N12K (p.Asn12Lys) variant details
- p.Asn12Lys
- gnomAD 1-11013763-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.24
- MetaLR 0.59
- MetaSVM 0.12
- CADD 13.70
- PolyPhen-2 0.75
- SIFT 0.11
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.536
- Literature evidence available