K8R (p.Lys8Arg) variant of OTOF (Otoferlin)
K8R (p.Lys8Arg) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K8R (p.Lys8Arg) variant details
- p.Lys8Arg
- TOPMed rs1667653941
- gnomAD rs1667653941
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.15
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available