N37S (p.Asn37Ser) variant of OTOF (Otoferlin)
N37S (p.Asn37Ser) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
N37S (p.Asn37Ser) variant details
- p.Asn37Ser
- gnomAD rs1487782524
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.28
- CADD 22.90
- PolyPhen-2 0.84
- SIFT 0.11
- Most common in the East Asian population (allele frequency 5.5e-05)
- Structural context available