R33W (p.Arg33Trp) variant of OTOF (Otoferlin)
R33W (p.Arg33Trp) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autosomal recessive nonsyndromic hearing loss 9; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R33W (p.Arg33Trp) variant details
- p.Arg33Trp
- rs150867836
- ClinGen CA1564813
- cosmic curated COSV10724
- ClinVar RCV000385177
- Conflicting interpretations
- Autosomal recessive nonsyndromic hearing loss 9; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.55
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Autosomal recessive nonsyndromic hearing loss 9; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: OTOF-Related Hearing Loss. (PMID 20301429)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)