W53* (p.Trp53Ter) variant of IRS1 (Insulin receptor substrate 1)
W53* (p.Trp53Ter) in IRS1 (Insulin receptor substrate 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data.
W53* (p.Trp53Ter) variant details
- p.Trp53Ter
- Ensembl rs1574667668
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.862
- CADD 38.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)