I78T (p.Ile78Thr) variant of OTOF (Otoferlin)
I78T (p.Ile78Thr) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
I78T (p.Ile78Thr) variant details
- p.Ile78Thr
- ExAC rs771736008
- gnomAD rs771736008
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.67
- CADD 23.70
- PolyPhen-2 0.41
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.6e-05)
- Structural context available