H6Y (p.His6Tyr) variant of OTOF (Otoferlin)
H6Y (p.His6Tyr) 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.
H6Y (p.His6Tyr) variant details
- p.His6Tyr
- TOPMed rs1456419643
- gnomAD rs1456419643
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.37
- CADD 18.20
- PolyPhen-2 0.09
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available