D65E (p.Asp65Glu) variant of TARDBP (TAR DNA-binding protein 43)
D65E (p.Asp65Glu) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D65E (p.Asp65Glu) variant details
- p.Asp65Glu
- rs80356716
- gnomAD 1-11013922-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.11
- MetaLR 0.56
- MetaSVM -0.33
- CADD 12.90
- SIFT 0.94
- Population evidence available
- Structural context available
- TARDBP TAR DNA-binding protein 43, N-terminal domain domainome 1.0: score -0.687
- Cited in: TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis. (PMID 18545701)