R1792C (p.Arg1792Cys) variant of OTOF (Otoferlin)
R1792C (p.Arg1792Cys) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nonsyndromic genetic hearing loss. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R1792C (p.Arg1792Cys) variant details
- p.Arg1792Cys
- rs142111099
- ClinGen CA182451
- cosmic curated COSV55507
- ClinVar RCV000155251
- Likely pathogenic
- Nonsyndromic genetic hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.84
- CADD 29.90
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Likely pathogenic (Nonsyndromic genetic hearing loss)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available