Q331K (p.Gln331Lys) variant of TARDBP (TAR DNA-binding protein 43)
Q331K (p.Gln331Lys) 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 0.69 / 1. The record also includes published literature.
Q331K (p.Gln331Lys) variant details
- p.Gln331Lys
- rs80356727
- Pathogenic
- Amyotrophic lateral sclerosis type 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- AlphaMissense 0.97
- MetaLR 0.80
- MetaSVM 0.54
- PolyPhen-2 0.46
- SIFT 0.19
- EVE 0.42
- ClinVar: Pathogenic (Amyotrophic lateral sclerosis type 10)
- UniProt: Pathogenic (in ALS10)
- Cited in: TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. (PMID 18309045)
- Cited in: Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. (PMID 20740007)