G1035V (p.Gly1035Val) variant of INSR (Insulin receptor)
G1035V (p.Gly1035Val) 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 0.98 / 1. The record also includes published literature and structural context.
G1035V (p.Gly1035Val) variant details
- p.Gly1035Val
- rs121913135
- ClinGen CA124211
- ClinVar RCV000015793
- UniProt VAR 004093
- Pathogenic
- Insulin-resistant diabetes mellitus AND acanthosis nigricans
- Missense
- Variant Prioritization Score for Impact Estimate 0.985
- MutPred 0.98
- 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: Phosphorylation state and biological function of a mutant human insulin receptor Val996. (PMID 2203761)
- Cited in: Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor. (PMID 2544998)