N45S (p.Asn45Ser) variant of TARDBP (TAR DNA-binding protein 43)
N45S (p.Asn45Ser) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N45S (p.Asn45Ser) variant details
- p.Asn45Ser
- rs1643464086
- gnomAD 1-11013861-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.36
- MetaLR 0.46
- MetaSVM -0.31
- CADD 22.70
- SIFT 0.23
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score 0.0401
- Literature evidence available