T608R (p.Thr608Arg) variant of IRS1 (Insulin receptor substrate 1)
T608R (p.Thr608Arg) in IRS1 (Insulin receptor substrate 1) 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 0.39 / 1. The record also includes population frequency data and published literature.
T608R (p.Thr608Arg) variant details
- p.Thr608Arg
- rs104893642
- ClinGen CA128621
- ClinVar RCV000022626
- UniProt VAR 025320
- Pathogenic
- Type 2 diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.30
- CADD 15.70
- PolyPhen-2 0.09
- SIFT 0.44
- ClinVar: Pathogenic (Type 2 diabetes mellitus)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Cited in: A novel T608R missense mutation in insulin receptor substrate-1 identified in a subject with type 2 diabetes impairs… (PMID 12679424)
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)