A1161T (p.Ala1161Thr) variant of INSR (Insulin receptor)
A1161T (p.Ala1161Thr) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Insulin resistance; 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.
A1161T (p.Ala1161Thr) variant details
- p.Ala1161Thr
- rs121913139
- ClinGen CA124225
- ClinVar RCV000015801
- ClinVar RCV000015802
- Pathogenic
- Insulin resistance; Insulin-resistant diabetes mellitus AND acanthosis nigricans
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- MutPred 0.97
- ClinVar: Pathogenic (Insulin resistance; Insulin-resistant diabetes mellitus AND acan)
- EBI: Pathogenic (in IRAN type A)
- UniProt: Pathogenic (in IRAN type A)
- Structural context available
- Cited in: Functional properties of a naturally occurring Trp1200----Ser1200 mutation of the insulin receptor. (PMID 1963473)
- Cited in: A naturally occurring mutation of insulin receptor alanine 1134 impairs tyrosine kinase function and is associated with… (PMID 2168397)