D57N (p.Asp57Asn) variant of OTOF (Otoferlin)
D57N (p.Asp57Asn) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
D57N (p.Asp57Asn) variant details
- p.Asp57Asn
- rs754784459
- ClinGen CA1564777
- ClinVar RCV002166373
- ExAC rs754784459
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.15
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:PIMA population (allele frequency 0.045)
- Structural context available