Q86H (p.Gln86His) variant of OTOF (Otoferlin)
Q86H (p.Gln86His) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q86H (p.Gln86His) variant details
- p.Gln86His
- gnomAD rs1317660474
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.32
- CADD 25.00
- PolyPhen-2 0.95
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available