K87N (p.Lys87Asn) variant of OTOF (Otoferlin)
K87N (p.Lys87Asn) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
K87N (p.Lys87Asn) variant details
- p.Lys87Asn
- cosmic curated COSV55506
- 1000Genomes rs545159141
- ExAC rs545159141
- gnomAD rs545159141
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.15
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available