S332N (p.Ser332Asn) variant of TARDBP (TAR DNA-binding protein 43)
S332N (p.Ser332Asn) 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 0.59 / 1. The record also includes published literature.
S332N (p.Ser332Asn) variant details
- p.Ser332Asn
- rs80356728
- Uncertain significance
- Amyotrophic lateral sclerosis type 10; FRONTOTEMPORAL LOBAR DEGENERATION WITH TD
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- AlphaMissense 0.74
- MetaLR 0.80
- MetaSVM 0.43
- PolyPhen-2 0.03
- SIFT 0.24
- EVE 0.11
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 10; FRONTOTEMPORAL LOBAR DEGE)
- UniProt: Uncertain significance (in ALS10)
- Cited in: High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. (PMID 19224587)