G295S (p.Gly295Ser) variant of TARDBP (TAR DNA-binding protein 43)
G295S (p.Gly295Ser) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G295S (p.Gly295Ser) variant details
- p.Gly295Ser
- rs80356723
- Pathogenic
- Amyotrophic lateral sclerosis type 10; FRONTOTEMPORAL LOBAR DEGENERATION WITH TD
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.50
- AlphaMissense 0.81
- MetaLR 0.64
- MetaSVM 0.12
- CADD 22.70
- PolyPhen-2 0.73
- ClinVar: Pathogenic (Amyotrophic lateral sclerosis type 10; FRONTOTEMPORAL LOBAR DEGE)
- UniProt: Pathogenic (in ALS10)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. (PMID 19224587)