T9I (p.Thr9Ile) variant of OTOF (Otoferlin)
T9I (p.Thr9Ile) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
T9I (p.Thr9Ile) variant details
- p.Thr9Ile
- TOPMed rs1429859500
- gnomAD rs1429859500
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.41
- CADD 23.50
- PolyPhen-2 0.91
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available