Y118C (p.Tyr118Cys) variant of OTOF (Otoferlin)
Y118C (p.Tyr118Cys) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
Y118C (p.Tyr118Cys) variant details
- p.Tyr118Cys
- ExAC rs761804786
- TOPMed rs761804786
- gnomAD rs761804786
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.82
- CADD 25.00
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available