R89C (p.Arg89Cys) variant of INS (Insulin)
R89C (p.Arg89Cys) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Diabetes mellitus, permanent neonatal 4; not provided; Neonatal diabetes mellitu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R89C (p.Arg89Cys) variant details
- p.Arg89Cys
- rs80356669
- ClinGen CA341644
- ClinVar RCV000020207
- ClinVar RCV001089453
- Pathogenic/Likely pathogenic
- Diabetes mellitus, permanent neonatal 4; not provided; Neonatal diabetes mellitu
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.82
- MetaLR 0.82
- MetaSVM 0.87
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Diabetes mellitus, permanent neonatal 4; not provided; Neonatal)
- EBI: Pathogenic (in PNDM4)
- UniProt: Pathogenic (in PNDM4)
- Population evidence available
- Structural context available
- Cited in: Insulin gene mutations as a cause of permanent neonatal diabetes. (PMID 17855560)
- Cited in: Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal… (PMID 18162506)