R1191Q (p.Arg1191Gln) variant of INSR (Insulin receptor)
R1191Q (p.Arg1191Gln) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Type 2 diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R1191Q (p.Arg1191Gln) variant details
- p.Arg1191Gln
- rs121913150
- ClinGen CA124248
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10025
- Pathogenic
- Type 2 diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.86
- MetaLR 0.67
- MetaSVM 0.45
- CADD 27.70
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (Type 2 diabetes mellitus)
- EBI: Pathogenic (in T2D)
- UniProt: Pathogenic (in T2D)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene. (PMID 1607076)
- Cited in: Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. (PMID 27896077)