R58G (p.Arg58Gly) variant of OTOF (Otoferlin)
R58G (p.Arg58Gly) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R58G (p.Arg58Gly) variant details
- p.Arg58Gly
- ExAC rs55758136
- TOPMed rs55758136
- gnomAD rs55758136
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.10
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available