G208V (p.Gly208Val) variant of PLP1 (Myelin proteolipid protein)
G208V (p.Gly208Val) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Auditory neuropathy spectrum disorder. The record also includes structural context.
G208V (p.Gly208Val) variant details
- p.Gly208Val
- rs2522317749
- cosmic curated COSV10588
- ClinGen CA414104201
- ClinVar RCV003984985
- Pathogenic
- Auditory neuropathy spectrum disorder
- Missense
- ClinVar: Pathogenic (Auditory neuropathy spectrum disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available