A106G (p.Ala106Gly) variant of OTOF (Otoferlin)
A106G (p.Ala106Gly) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A106G (p.Ala106Gly) variant details
- p.Ala106Gly
- ExAC rs777389771
- TOPMed rs777389771
- gnomAD rs777389771
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.08
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available