Q343R (p.Gln343Arg) variant of TARDBP (TAR DNA-binding protein 43)
Q343R (p.Gln343Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature.
Q343R (p.Gln343Arg) variant details
- p.Gln343Arg
- rs80356731
- Pathogenic
- Amyotrophic lateral sclerosis type 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- AlphaMissense 0.78
- MetaLR 0.70
- MetaSVM 0.30
- PolyPhen-2 0.97
- SIFT 0.04
- EVE 0.21
- ClinVar: Pathogenic (Amyotrophic lateral sclerosis type 10)
- UniProt: Pathogenic (in ALS10)
- Cited in: TDP-43 mutation in familial amyotrophic lateral sclerosis. (PMID 18438952)