N68S (p.Asn68Ser) variant of OTOF (Otoferlin)
N68S (p.Asn68Ser) 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.
N68S (p.Asn68Ser) variant details
- p.Asn68Ser
- gnomAD rs1216996626
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.34
- CADD 23.30
- PolyPhen-2 0.93
- SIFT 0.20
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available