A382T (p.Ala382Thr) variant of TARDBP (TAR DNA-binding protein 43)
A382T (p.Ala382Thr) in TARDBP (TAR DNA-binding protein 43) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of Amyotrophic lateral sclerosis type 10; FRONTOTEMPORAL LOBAR DEGENERATION WITH TD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A382T (p.Ala382Thr) variant details
- p.Ala382Thr
- rs367543041
- Pathogenic/Likely pathogenic
- Amyotrophic lateral sclerosis type 10; FRONTOTEMPORAL LOBAR DEGENERATION WITH TD
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.52
- MetaLR 0.76
- MetaSVM 0.30
- CADD 19.80
- PolyPhen-2 0.03
- SIFT 0.28
- ClinVar: Pathogenic/Likely pathogenic (Amyotrophic lateral sclerosis type 10; FRONTOTEMPORAL LOBAR DEGE)
- UniProt: Likely pathogenic (in ALS10)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. (PMID 18372902)
- Cited in: High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. (PMID 19224587)