R145C (p.Arg145Cys) variant of INSR (Insulin receptor)
R145C (p.Arg145Cys) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Insulin resistance; Rabson-Mendenhall syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R145C (p.Arg145Cys) variant details
- p.Arg145Cys
- rs1967775472
- ClinVar RCV004821005
- Ensembl rs1967775472
- Pathogenic/Likely pathogenic
- Insulin resistance; Rabson-Mendenhall syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.85
- MetaLR 0.74
- MetaSVM 0.67
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Insulin resistance; Rabson-Mendenhall syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: INSR-Related Severe Insulin Resistance Syndrome. (PMID 29369573)