R89H (p.Arg89His) variant of INS (Insulin)
R89H (p.Arg89His) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of INS-related disorder; Hyperproinsulinemia; Type 1 diabetes mellitus 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R89H (p.Arg89His) variant details
- p.Arg89His
- rs28933985
- ClinGen CA123079
- ClinVar RCV000014310
- ClinVar RCV001091846
- Pathogenic/Likely pathogenic
- INS-related disorder; Hyperproinsulinemia; Type 1 diabetes mellitus 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.79
- MetaLR 0.81
- MetaSVM 0.77
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (INS-related disorder; Hyperproinsulinemia; Type 1 diabetes melli)
- EBI: Pathogenic (in HPRI)
- UniProt: Pathogenic (in HPRI)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine for arginine at… (PMID 2196279)
- Cited in: Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia. (PMID 4019786)