R46* (p.Arg46Ter) variant of INS (Insulin)
R46* (p.Arg46Ter) in INS (Insulin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in MODY10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R46* (p.Arg46Ter) variant details
- p.Arg46Ter
- rs1225892123
- ClinGen CA379121559
- ClinVar RCV003402304
- gnomAD rs1225892123
- Likely pathogenic
- in MODY10
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.548
- CADD 35.00
- EBI: Likely pathogenic (in MODY10)
- UniProt: Likely pathogenic (in MODY10)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available