D18H (p.Asp18His) variant of OTOF (Otoferlin)
D18H (p.Asp18His) in OTOF (Otoferlin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
D18H (p.Asp18His) variant details
- p.Asp18His
- ESP rs376856990
- ExAC rs376856990
- TOPMed rs376856990
- gnomAD rs376856990
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.59
- CADD 24.50
- PolyPhen-2 0.82
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available