D103E (p.Asp103Glu) variant of OTOF (Otoferlin)
D103E (p.Asp103Glu) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D103E (p.Asp103Glu) variant details
- p.Asp103Glu
- TOPMed rs1310656089
- gnomAD rs1310656089
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.12
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.97
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available