M83I (p.Met83Ile) variant of OTOF (Otoferlin)
M83I (p.Met83Ile) 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.
M83I (p.Met83Ile) variant details
- p.Met83Ile
- TOPMed rs1230221744
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.27
- CADD 23.70
- PolyPhen-2 0.82
- SIFT 0.20
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available