E1700Q (p.Glu1700Gln) variant of OTOF (Otoferlin)
E1700Q (p.Glu1700Gln) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Nonsyndromic genetic hearing loss. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
E1700Q (p.Glu1700Gln) variant details
- p.Glu1700Gln
- rs199766465
- ClinGen CA345132
- cosmic curated COSV10956
- ClinVar RCV000056047
- Pathogenic
- Nonsyndromic genetic hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.85
- CADD 26.00
- PolyPhen-2 0.86
- SIFT 0.02
- ClinVar: Pathogenic (Nonsyndromic genetic hearing loss)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:DAUR population (allele frequency 0.056)
- Structural context available
- Cited in: OTOF-Related Hearing Loss. (PMID 20301429)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)