G298S (p.Gly298Ser) variant of TARDBP (TAR DNA-binding protein 43)
G298S (p.Gly298Ser) 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 0.54 / 1. The record also includes published literature.
G298S (p.Gly298Ser) variant details
- p.Gly298Ser
- rs4884357
- Pathogenic/Likely pathogenic
- Amyotrophic lateral sclerosis type 10; FRONTOTEMPORAL LOBAR DEGENERATION WITH TD
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- AlphaMissense 0.07
- MetaLR 0.76
- MetaSVM 0.32
- PolyPhen-2 0.06
- SIFT 0.28
- MutPred 0.76
- ClinVar: Pathogenic/Likely pathogenic (Amyotrophic lateral sclerosis type 10; FRONTOTEMPORAL LOBAR DEGE)
- UniProt: Likely pathogenic (in ALS10)
- Cited in: TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. (PMID 18396105)