S92R (p.Ser92Arg) variant of OTOF (Otoferlin)
S92R (p.Ser92Arg) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
S92R (p.Ser92Arg) variant details
- p.Ser92Arg
- TOPMed rs1005043242
- gnomAD rs1005043242
- Missense
- Variant Prioritization Score for Impact Estimate 0.0948
- REVEL 0.05
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available