M337V (p.Met337Val) variant of TARDBP (TAR DNA-binding protein 43)
M337V (p.Met337Val) in TARDBP (TAR DNA-binding protein 43) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic 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 0.66 / 1. The record also includes published literature.
M337V (p.Met337Val) variant details
- p.Met337Val
- rs80356730
- Pathogenic/Likely pathogenic
- Amyotrophic lateral sclerosis type 10; FRONTOTEMPORAL LOBAR DEGENERATION WITH TD
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- AlphaMissense 0.56
- MetaLR 0.81
- MetaSVM 0.70
- PolyPhen-2 0.64
- SIFT 0.18
- EVE 0.17
- ClinVar: Pathogenic/Likely pathogenic (Amyotrophic lateral sclerosis type 10; FRONTOTEMPORAL LOBAR DEGE)
- UniProt: Likely pathogenic (in ALS10)
- Cited in: TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. (PMID 18309045)
- Cited in: High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. (PMID 19224587)