W1227S (p.Trp1227Ser) variant of INSR (Insulin receptor)
W1227S (p.Trp1227Ser) 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 0.96 / 1. The record also includes published literature and structural context.
W1227S (p.Trp1227Ser) variant details
- p.Trp1227Ser
- rs121913140
- ClinGen CA124220
- ClinVar RCV000015797
- UniProt VAR 004101
- Pathogenic
- Insulin-resistant diabetes mellitus AND acanthosis nigricans
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- MutPred 0.96
- 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: Functional properties of a naturally occurring Trp1200----Ser1200 mutation of the insulin receptor. (PMID 1963473)
- Cited in: Detection of an alteration in the insulin-receptor gene in a patient with insulin resistance, acanthosis nigricans, and… (PMID 2460770)