W1889S (p.Trp1889Ser) variant of OTOF (Otoferlin)
W1889S (p.Trp1889Ser) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Auditory neuropathy. The record also includes structural context.
W1889S (p.Trp1889Ser) variant details
- p.Trp1889Ser
- rs2465492372
- ClinGen CA346129864
- ClinVar RCV003484504
- Likely pathogenic
- Auditory neuropathy
- Missense
- ClinVar: Likely pathogenic (Auditory neuropathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available