A106V (p.Ala106Val) variant of OTOF (Otoferlin)
A106V (p.Ala106Val) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A106V (p.Ala106Val) variant details
- p.Ala106Val
- ExAC rs777389771
- TOPMed rs777389771
- gnomAD rs777389771
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.11
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available