R113* (p.Arg113Ter) variant of INSR (Insulin receptor)
R113* (p.Arg113Ter) in INSR (Insulin receptor) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact in the context of in LEPRCH. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
R113* (p.Arg113Ter) variant details
- p.Arg113Ter
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10025
- Variant assessed as somatic; high impact.
- in LEPRCH
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.564
- CADD 35.00
- UniProt: Variant assessed as somatic; high impact. (in LEPRCH)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available