T80I (p.Thr80Ile) variant of OTOF (Otoferlin)
T80I (p.Thr80Ile) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
T80I (p.Thr80Ile) variant details
- p.Thr80Ile
- gnomAD rs1258131104
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.35
- CADD 23.10
- PolyPhen-2 0.43
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available