R19Q (p.Arg19Gln) variant of OTOF (Otoferlin)
R19Q (p.Arg19Gln) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R19Q (p.Arg19Gln) variant details
- p.Arg19Gln
- 1000Genomes rs200316189
- ESP rs200316189
- ExAC rs200316189
- TOPMed rs200316189
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.41
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available