N70S (p.Asn70Ser) variant of TARDBP (TAR DNA-binding protein 43)
N70S (p.Asn70Ser) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N70S (p.Asn70Ser) variant details
- p.Asn70Ser
- gnomAD 1-11013936-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.12
- MetaLR 0.51
- MetaSVM -0.54
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.26
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score 0.0844
- Literature evidence available