E36K (p.Glu36Lys) variant of OTOF (Otoferlin)
E36K (p.Glu36Lys) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E36K (p.Glu36Lys) variant details
- p.Glu36Lys
- gnomAD rs1191109010
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.34
- CADD 26.00
- PolyPhen-2 0.96
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available