R566P (p.Arg566Pro) variant of OTOF (Otoferlin)
R566P (p.Arg566Pro) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Auditory neuropathy spectrum disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
R566P (p.Arg566Pro) variant details
- p.Arg566Pro
- rs564169177
- ClinGen CA346133259
- ClinVar RCV003984978
- Pathogenic
- Auditory neuropathy spectrum disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- AlphaMissense 0.95
- MetaLR 0.79
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic (Auditory neuropathy spectrum disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available