W160* (p.Trp160Ter) variant of INSR (Insulin receptor)
W160* (p.Trp160Ter) in INSR (Insulin receptor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
W160* (p.Trp160Ter) variant details
- p.Trp160Ter
- rs121913146
- ClinGen CA124238
- ClinVar RCV000015809
- Ensembl rs121913146
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.863
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. (PMID 2365819)
- Cited in: Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. (PMID 27896077)