E95Q (p.Glu95Gln) variant of OTOF (Otoferlin)
E95Q (p.Glu95Gln) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E95Q (p.Glu95Gln) variant details
- p.Glu95Gln
- TOPMed rs1666608591
- gnomAD rs1666608591
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.21
- CADD 19.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available