G614E (p.Gly614Glu) variant of OTOF (Otoferlin)
G614E (p.Gly614Glu) 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 0.91 / 1. The record also includes published literature and structural context.
G614E (p.Gly614Glu) variant details
- p.Gly614Glu
- rs397515589
- ClinGen CA345098
- ClinVar RCV000056023
- ClinVar RCV001730488
- Likely pathogenic
- Bilateral sensorineural hearing impairment
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- 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)