K87R (p.Lys87Arg) variant of OTOF (Otoferlin)
K87R (p.Lys87Arg) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
K87R (p.Lys87Arg) variant details
- p.Lys87Arg
- Ensembl rs1666609430
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.10
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.33
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available