W50* (p.Trp50Ter) variant of OTOF (Otoferlin)
W50* (p.Trp50Ter) in OTOF (Otoferlin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
W50* (p.Trp50Ter) variant details
- p.Trp50Ter
- rs202086317
- ClinGen CA1564785
- ClinVar RCV000778610
- ClinVar RCV001008709
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.868
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: OTOF-Related Hearing Loss. (PMID 20301429)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)