A1927D (p.Ala1927Asp) variant of OTOF (Otoferlin)
A1927D (p.Ala1927Asp) 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.
A1927D (p.Ala1927Asp) variant details
- p.Ala1927Asp
- rs2465490325
- ClinGen CA346128421
- ClinVar RCV003484497
- Likely pathogenic
- Auditory neuropathy
- Missense
- ClinVar: Likely pathogenic (Auditory neuropathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available