D102V (p.Asp102Val) variant of OTOF (Otoferlin)
D102V (p.Asp102Val) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
D102V (p.Asp102Val) variant details
- p.Asp102Val
- ExAC rs774280018
- TOPMed rs774280018
- gnomAD rs774280018
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.78
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available