R1856Q (p.Arg1856Gln) variant of OTOF (Otoferlin)
R1856Q (p.Arg1856Gln) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Nonsyndromic genetic hearing loss; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R1856Q (p.Arg1856Gln) variant details
- p.Arg1856Gln
- rs397515608
- ClinGen CA345139
- cosmic curated COSV55496
- ClinVar RCV000056051
- Pathogenic/Likely pathogenic
- Nonsyndromic genetic hearing loss; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.78
- CADD 28.80
- PolyPhen-2 0.47
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Nonsyndromic genetic hearing loss; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00019)
- Structural context available
- Cited in: OTOF-Related Hearing Loss. (PMID 20301429)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)