A42G (p.Ala42Gly) variant of OTOF (Otoferlin)
A42G (p.Ala42Gly) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A42G (p.Ala42Gly) variant details
- p.Ala42Gly
- gnomAD rs763649380
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.21
- CADD 25.30
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available