R117Q (p.Arg117Gln) variant of OTOF (Otoferlin)
R117Q (p.Arg117Gln) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R117Q (p.Arg117Gln) variant details
- p.Arg117Gln
- cosmic curated COSV55510
- TOPMed rs1403233423
- gnomAD rs1403233423
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.12
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available