D10N (p.Asp10Asn) variant of TARDBP (TAR DNA-binding protein 43)
D10N (p.Asp10Asn) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D10N (p.Asp10Asn) variant details
- p.Asp10Asn
- gnomAD 1-11013755-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.30
- MetaLR 0.62
- MetaSVM 0.27
- CADD 27.90
- PolyPhen-2 0.09
- SIFT 0.13
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.208
- Literature evidence available