I5F (p.Ile5Phe) variant of OTOF (Otoferlin)
I5F (p.Ile5Phe) in OTOF (Otoferlin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
I5F (p.Ile5Phe) variant details
- p.Ile5Phe
- ExAC rs745503114
- gnomAD rs745503114
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.30
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available