S11* (p.Ser11Ter) variant of OTOF (Otoferlin)
S11* (p.Ser11Ter) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S11* (p.Ser11Ter) variant details
- p.Ser11Ter
- rs200972155
- ClinGen CA1564847
- ClinVar RCV002536735
- ClinVar RCV005633674
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: OTOF-Related Hearing Loss. (PMID 20301429)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)