D13N (p.Asp13Asn) variant of TARDBP (TAR DNA-binding protein 43)
D13N (p.Asp13Asn) 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.
D13N (p.Asp13Asn) variant details
- p.Asp13Asn
- gnomAD 1-11013764-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.20
- MetaLR 0.47
- MetaSVM -0.15
- CADD 26.00
- PolyPhen-2 0.07
- SIFT 0.12
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.0253
- Literature evidence available