R1119Q (p.Arg1119Gln) variant of INSR (Insulin receptor)
R1119Q (p.Arg1119Gln) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Rabson-Mendenhall syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
R1119Q (p.Arg1119Gln) variant details
- p.Arg1119Gln
- gnomAD rs1160859936
- Likely pathogenic
- Rabson-Mendenhall syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.93
- MetaLR 0.80
- MetaSVM 0.77
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Rabson-Mendenhall syndrome)
- EBI: Likely pathogenic (in LEPRCH)
- UniProt: Likely pathogenic (in LEPRCH)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available