S379C (p.Ser379Cys) variant of TARDBP (TAR DNA-binding protein 43)
S379C (p.Ser379Cys) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature.
S379C (p.Ser379Cys) variant details
- p.Ser379Cys
- rs80356739
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- AlphaMissense 0.29
- MetaLR 0.69
- MetaSVM 0.51
- PolyPhen-2 0.95
- SIFT 0.02
- MutPred 0.80
- Cited in: High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. (PMID 19224587)