R1020Q (p.Arg1020Gln) variant of INSR (Insulin receptor)
R1020Q (p.Arg1020Gln) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Leprechaunism syndrome; Rabson-Mendenhall syndrome; Hyperinsulinism due to INSR. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R1020Q (p.Arg1020Gln) variant details
- p.Arg1020Gln
- rs121913148
- ClinGen CA124245
- NCI-TCGA Cosmic COSV5717
- cosmic curated COSV57172
- Likely pathogenic
- Leprechaunism syndrome; Rabson-Mendenhall syndrome; Hyperinsulinism due to INSR
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.85
- MetaLR 0.85
- MetaSVM 0.90
- CADD 27.60
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Likely pathogenic (Leprechaunism syndrome; Rabson-Mendenhall syndrome; Hyperinsulin)
- EBI: Pathogenic (in IRAN type A)
- UniProt: Pathogenic (in IRAN type A)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Insulin resistance and diabetes due to different mutations in the tyrosine kinase domain of both insulin receptor gene… (PMID 2002058)
- Cited in: Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. (PMID 27896077)