N105S (p.Asn105Ser) variant of OTOF (Otoferlin)
N105S (p.Asn105Ser) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
N105S (p.Asn105Ser) variant details
- p.Asn105Ser
- 1000Genomes rs201023798
- ExAC rs201023798
- gnomAD rs201023798
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.27
- CADD 25.80
- PolyPhen-2 0.76
- SIFT 0.04
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available