S379P (p.Ser379Pro) variant of TARDBP (TAR DNA-binding protein 43)
S379P (p.Ser379Pro) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature.
S379P (p.Ser379Pro) variant details
- p.Ser379Pro
- rs80356738
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- AlphaMissense 0.12
- MetaLR 0.57
- MetaSVM -0.23
- PolyPhen-2 0.00
- SIFT 0.10
- MutPred 0.55
- Cited in: High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. (PMID 19224587)
- Cited in: Novel TARDBP mutations in Nordic ALS patients. (PMID 22456481)