S55R (p.Ser55Arg) variant of OTOF (Otoferlin)
S55R (p.Ser55Arg) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S55R (p.Ser55Arg) variant details
- p.Ser55Arg
- ExAC rs749507265
- gnomAD rs749507265
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.11
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available