V89I (p.Val89Ile) variant of OTOF (Otoferlin)
V89I (p.Val89Ile) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V89I (p.Val89Ile) variant details
- p.Val89Ile
- gnomAD rs1449106051
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.09
- CADD 19.90
- PolyPhen-2 0.04
- SIFT 0.24
- Most common in the South Asian population (allele frequency 4.7e-05)
- Structural context available