S55I (p.Ser55Ile) variant of OTOF (Otoferlin)
S55I (p.Ser55Ile) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
S55I (p.Ser55Ile) variant details
- p.Ser55Ile
- TOPMed rs768744355
- Missense
- Variant Prioritization Score for Impact Estimate 0.086
- REVEL 0.10
- CADD 1.98
- PolyPhen-2 0.05
- SIFT 0.06
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available