D45N (p.Asp45Asn) variant of OTOF (Otoferlin)
D45N (p.Asp45Asn) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
D45N (p.Asp45Asn) variant details
- p.Asp45Asn
- cosmic curated COSV10455
- gnomAD rs1217004666
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.11
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.38
- Population evidence available
- Structural context available