Q498P (p.Gln498Pro) variant of OTOF (Otoferlin)
Q498P (p.Gln498Pro) 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 spectrum disorder. The record also includes structural context.
Q498P (p.Gln498Pro) variant details
- p.Gln498Pro
- rs2465272620
- ClinGen CA346135420
- ClinVar RCV003984986
- Likely pathogenic
- Auditory neuropathy spectrum disorder
- Missense
- ClinVar: Likely pathogenic (Auditory neuropathy spectrum disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available