A1162E (p.Ala1162Glu) variant of INSR (Insulin receptor)
A1162E (p.Ala1162Glu) 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 0.97 / 1. The record also includes published literature and structural context.
A1162E (p.Ala1162Glu) variant details
- p.Ala1162Glu
- rs121913154
- ClinGen CA124257
- ClinVar RCV000015819
- UniProt VAR 004096
- Pathogenic
- Insulin-resistant diabetes mellitus AND acanthosis nigricans
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- MutPred 0.97
- 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: Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. (PMID 27896077)
- Cited in: Substitution of glutamic acid for alanine 1135 in the putative "catalytic loop" of the tyrosine kinase domain of the… (PMID 8096518)