E91K (p.Glu91Lys) variant of OTOF (Otoferlin)
E91K (p.Glu91Lys) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E91K (p.Glu91Lys) variant details
- p.Glu91Lys
- TOPMed rs1238562287
- gnomAD rs1238562287
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.15
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available