E60K (p.Glu60Lys) variant of OTOF (Otoferlin)
E60K (p.Glu60Lys) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
E60K (p.Glu60Lys) variant details
- p.Glu60Lys
- gnomAD rs1157591718
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.67
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available