I383V (p.Ile383Val) variant of TARDBP (TAR DNA-binding protein 43)
I383V (p.Ile383Val) in TARDBP (TAR DNA-binding protein 43) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic-likely-pathogenic.
I383V (p.Ile383Val) variant details
- p.Ile383Val
- rs80356740
- pathogenic-likely-pathogenic
- Missense
- EBI: ['pathogenic-likely-pathogenic']
- UniProt: Pathogenic-likely-pathogenic