D98G (p.Asp98Gly) variant of OTOF (Otoferlin)
D98G (p.Asp98Gly) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
D98G (p.Asp98Gly) variant details
- p.Asp98Gly
- ESP rs143766273
- ExAC rs143766273
- TOPMed rs143766273
- gnomAD rs143766273
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.49
- CADD 26.40
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available