R361S (p.Arg361Ser) variant of TARDBP (TAR DNA-binding protein 43)
R361S (p.Arg361Ser) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature.
R361S (p.Arg361Ser) variant details
- p.Arg361Ser
- rs80356735
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- AlphaMissense 0.75
- MetaLR 0.72
- MetaSVM 0.30
- PolyPhen-2 0.60
- SIFT 0.10
- MutPred 0.72
- Cited in: TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. (PMID 18372902)
- Cited in: Peptidylprolyl isomerase A governs TARDBP function and assembly in heterogeneous nuclear ribonucleoprotein complexes. (PMID 25678563)