G348C (p.Gly348Cys) variant of TARDBP (TAR DNA-binding protein 43)
G348C (p.Gly348Cys) 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 not provided; Amyotrophic lateral sclerosis type 10; FRONTOTEMPORAL LOBAR DEGENE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature.
G348C (p.Gly348Cys) variant details
- p.Gly348Cys
- rs80356733
- Pathogenic/Likely pathogenic
- not provided; Amyotrophic lateral sclerosis type 10; FRONTOTEMPORAL LOBAR DEGENE
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- AlphaMissense 0.19
- MetaLR 0.75
- MetaSVM 0.51
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.78
- ClinVar: Pathogenic/Likely pathogenic (not provided; Amyotrophic lateral sclerosis type 10; FRONTOTEMPO)
- UniProt: Likely pathogenic (in ALS10)
- Cited in: TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. (PMID 18372902)