I107V (p.Ile107Val) variant of OTOF (Otoferlin)
I107V (p.Ile107Val) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
I107V (p.Ile107Val) variant details
- p.Ile107Val
- TOPMed rs1666607376
- gnomAD rs1666607376
- Missense
- Variant Prioritization Score for Impact Estimate 0.0849
- REVEL 0.08
- CADD 1.04
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available