R1928C (p.Arg1928Cys) variant of OTOF (Otoferlin)
R1928C (p.Arg1928Cys) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Auditory neuropathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
R1928C (p.Arg1928Cys) variant details
- p.Arg1928Cys
- rs898393464
- ClinGen CA44406693
- ClinVar RCV003484493
- Ensembl rs898393464
- Likely pathogenic
- Auditory neuropathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.82
- CADD 31.00
- PolyPhen-2 0.79
- SIFT 0.00
- ClinVar: Likely pathogenic (Auditory neuropathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available