S32T (p.Ser32Thr) variant of OTOF (Otoferlin)
S32T (p.Ser32Thr) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S32T (p.Ser32Thr) variant details
- p.Ser32Thr
- ExAC rs755070380
- TOPMed rs755070380
- gnomAD rs755070380
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.20
- CADD 22.60
- PolyPhen-2 0.91
- SIFT 0.91
- Most common in the South Asian population (allele frequency 5e-05)
- Structural context available