S393L (p.Ser393Leu) variant of TARDBP (TAR DNA-binding protein 43)
S393L (p.Ser393Leu) in TARDBP (TAR DNA-binding protein 43) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance 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 0.70 / 1. The record also includes population frequency data and published literature.
S393L (p.Ser393Leu) variant details
- p.Ser393Leu
- rs80356743
- Uncertain significance
- Amyotrophic lateral sclerosis type 10; FRONTOTEMPORAL LOBAR DEGENERATION WITH TD
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.68
- MetaLR 0.74
- MetaSVM 0.69
- CADD 21.60
- PolyPhen-2 0.06
- SIFT 0.02
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 10; FRONTOTEMPORAL LOBAR DEGE)
- UniProt: Uncertain significance (in ALS10)
- Most common in the South Asian population (allele frequency 0.00021)
- Cited in: High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. (PMID 19224587)