R58K (p.Arg58Lys) variant of OTOF (Otoferlin)
R58K (p.Arg58Lys) 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 0.30 / 1. The record also includes population frequency data and structural context.
R58K (p.Arg58Lys) variant details
- p.Arg58Lys
- rs201067363
- ClinGen CA1564775
- NCI-TCGA Cosmic COSV9971
- cosmic curated COSV99718
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.05
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.90
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available