S54R (p.Ser54Arg) variant of OTOF (Otoferlin)
S54R (p.Ser54Arg) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S54R (p.Ser54Arg) variant details
- p.Ser54Arg
- TOPMed rs1446661227
- gnomAD rs1446661227
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.19
- CADD 15.60
- PolyPhen-2 0.01
- SIFT 0.77
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available