E60G (p.Glu60Gly) variant of OTOF (Otoferlin)
E60G (p.Glu60Gly) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
E60G (p.Glu60Gly) variant details
- p.Glu60Gly
- ExAC rs757857070
- gnomAD rs757857070
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.73
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available