R1583C (p.Arg1583Cys) variant of OTOF (Otoferlin)
R1583C (p.Arg1583Cys) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive nonsyndromic hearing loss 9; Bilateral sensorineural hearing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R1583C (p.Arg1583Cys) variant details
- p.Arg1583Cys
- rs781688103
- ClinGen CA1563058
- cosmic curated COSV10809
- ClinVar RCV000454260
- Pathogenic/Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 9; Bilateral sensorineural hearing
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.88
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 9; Bilateral senso)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Cited in: OTOF-Related Hearing Loss. (PMID 20301429)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)