N390D (p.Asn390Asp) variant of TARDBP (TAR DNA-binding protein 43)
N390D (p.Asn390Asp) in TARDBP (TAR DNA-binding protein 43) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED; Amyotro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and published literature.
N390D (p.Asn390Asp) variant details
- p.Asn390Asp
- rs80356741
- Conflicting interpretations
- FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED; Amyotro
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.49
- MetaLR 0.68
- MetaSVM 0.26
- CADD 24.00
- PolyPhen-2 0.90
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-)
- UniProt: Conflicting interpretations (in ALS10)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Cited in: TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. (PMID 18372902)