R1792H (p.Arg1792His) variant of OTOF (Otoferlin)
R1792H (p.Arg1792His) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Rare genetic deafness; Nonsyndromic genetic hearing loss; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R1792H (p.Arg1792His) variant details
- p.Arg1792His
- rs111033349
- ClinGen CA236032
- cosmic curated COSV10584
- ClinVar RCV000041571
- Pathogenic/Likely pathogenic
- Rare genetic deafness; Nonsyndromic genetic hearing loss; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.86
- CADD 28.20
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Rare genetic deafness; Nonsyndromic genetic hearing loss; not pr)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients. (PMID 29048421)
- Cited in: OTOF-Related Hearing Loss. (PMID 20301429)