A315T (p.Ala315Thr) variant of TARDBP (TAR DNA-binding protein 43)
A315T (p.Ala315Thr) in TARDBP (TAR DNA-binding protein 43) is a missense change. Clinical records from ClinVar and UniProt describe it as 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 0.50 / 1. The record also includes population frequency data and published literature.
A315T (p.Ala315Thr) variant details
- p.Ala315Thr
- rs80356726
- Pathogenic
- Amyotrophic lateral sclerosis type 10; FRONTOTEMPORAL LOBAR DEGENERATION WITH TD
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.51
- MetaLR 0.41
- MetaSVM -0.14
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.11
- ClinVar: Pathogenic (Amyotrophic lateral sclerosis type 10; FRONTOTEMPORAL LOBAR DEGE)
- UniProt: Pathogenic (in ALS10)
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Cited in: TDP-43 A315T mutation in familial motor neuron disease. (PMID 18288693)
- Cited in: TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. (PMID 18372902)