E39D (p.Glu39Asp) variant of OTOF (Otoferlin)
E39D (p.Glu39Asp) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E39D (p.Glu39Asp) variant details
- p.Glu39Asp
- TOPMed rs1667108620
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.41
- CADD 13.00
- PolyPhen-2 0.84
- SIFT 0.43
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available