V23A (p.Val23Ala) variant of OTOF (Otoferlin)
V23A (p.Val23Ala) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
V23A (p.Val23Ala) variant details
- p.Val23Ala
- TOPMed rs1572507104
- gnomAD rs1572507104
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.47
- CADD 26.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available