R762S (p.Arg762Ser) variant of INSR (Insulin receptor)
R762S (p.Arg762Ser) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Insulin-resistant diabetes mellitus AND acanthosis nigricans. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
R762S (p.Arg762Ser) variant details
- p.Arg762Ser
- rs121913138
- ClinGen CA124221
- ClinVar RCV000015798
- UniProt VAR 004090
- Pathogenic
- Insulin-resistant diabetes mellitus AND acanthosis nigricans
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- MutPred 0.79
- ClinVar: Pathogenic (Insulin-resistant diabetes mellitus AND acanthosis nigricans)
- EBI: Pathogenic (in IRAN type A)
- UniProt: Pathogenic (in IRAN type A)
- Structural context available
- Cited in: Familial hypertrophy of pineal body, hyperplasia of adrenal cortex and diabetes mellitus; report of 3 cases. (PMID 13302174)
- Cited in: Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. (PMID 27896077)