R117G (p.Arg117Gly) variant of OTOF (Otoferlin)
R117G (p.Arg117Gly) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R117G (p.Arg117Gly) variant details
- p.Arg117Gly
- ExAC rs773214630
- TOPMed rs773214630
- gnomAD rs773214630
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.23
- CADD 22.80
- PolyPhen-2 0.09
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available