D45G (p.Asp45Gly) variant of OTOF (Otoferlin)
D45G (p.Asp45Gly) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
D45G (p.Asp45Gly) variant details
- p.Asp45Gly
- gnomAD rs1361597258
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.23
- CADD 19.90
- PolyPhen-2 0.06
- SIFT 0.27
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available