N75S (p.Asn75Ser) variant of OTOF (Otoferlin)
N75S (p.Asn75Ser) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
N75S (p.Asn75Ser) variant details
- p.Asn75Ser
- rs775875524
- ClinGen CA1564766
- cosmic curated COSV55499
- ClinVar RCV000384261
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.41
- CADD 24.70
- PolyPhen-2 0.93
- SIFT 0.02
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available