R26Q (p.Arg26Gln) variant of OTOF (Otoferlin)
R26Q (p.Arg26Gln) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R26Q (p.Arg26Gln) variant details
- p.Arg26Gln
- cosmic curated COSV55497
- ExAC rs749555751
- TOPMed rs749555751
- gnomAD rs749555751
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.35
- CADD 25.40
- PolyPhen-2 0.38
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available