T9P (p.Thr9Pro) variant of OTOF (Otoferlin)
T9P (p.Thr9Pro) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
T9P (p.Thr9Pro) variant details
- p.Thr9Pro
- ExAC rs764457788
- TOPMed rs764457788
- gnomAD rs764457788
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.51
- CADD 25.30
- PolyPhen-2 0.86
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available