I78V (p.Ile78Val) variant of OTOF (Otoferlin)
I78V (p.Ile78Val) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
I78V (p.Ile78Val) variant details
- p.Ile78Val
- TOPMed rs1192130440
- gnomAD rs1192130440
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.11
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available