R1080P (p.Arg1080Pro) variant of OTOF (Otoferlin)
R1080P (p.Arg1080Pro) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bilateral sensorineural hearing impairment. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
R1080P (p.Arg1080Pro) variant details
- p.Arg1080Pro
- rs397515598
- ClinGen CA345113
- ClinVar RCV000056035
- ClinVar RCV001730491
- Likely pathogenic
- Bilateral sensorineural hearing impairment
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- AlphaMissense 0.47
- MetaLR 0.49
- MetaSVM -0.02
- PolyPhen-2 0.94
- SIFT 0.09
- EVE 0.75
- ClinVar: Likely pathogenic (Bilateral sensorineural hearing impairment)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: OTOF-Related Hearing Loss. (PMID 20301429)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)