E63Q (p.Glu63Gln) variant of OTOF (Otoferlin)
E63Q (p.Glu63Gln) in OTOF (Otoferlin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E63Q (p.Glu63Gln) variant details
- p.Glu63Gln
- ExAC rs753461913
- TOPMed rs753461913
- gnomAD rs753461913
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.28
- CADD 22.90
- PolyPhen-2 0.99
- SIFT 0.35
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available