E1733K (p.Glu1733Lys) variant of OTOF (Otoferlin)
E1733K (p.Glu1733Lys) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Auditory neuropathy spectrum disorder; Autosomal recessive nonsyndromic hearing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
E1733K (p.Glu1733Lys) variant details
- p.Glu1733Lys
- rs397515605
- ClinGen CA345134
- cosmic curated COSV55501
- ClinVar RCV000056048
- Pathogenic/Likely pathogenic
- Auditory neuropathy spectrum disorder; Autosomal recessive nonsyndromic hearing
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.92
- CADD 25.20
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Auditory neuropathy spectrum disorder; Autosomal recessive nonsy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- Cited in: OTOF-Related Hearing Loss. (PMID 20301429)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)