S32P (p.Ser32Pro) variant of OTOF (Otoferlin)
S32P (p.Ser32Pro) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
S32P (p.Ser32Pro) variant details
- p.Ser32Pro
- ExAC rs755070380
- TOPMed rs755070380
- gnomAD rs755070380
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.57
- CADD 26.90
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available