R89P (p.Arg89Pro) variant of INS (Insulin)
R89P (p.Arg89Pro) in INS (Insulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R89P (p.Arg89Pro) variant details
- p.Arg89Pro
- rs28933985
- ClinGen CA123083
- ClinVar RCV000014315
- ExAC rs28933985
- Pathogenic
- Diabetes mellitus, permanent neonatal 4; not provided; Neonatal diabetes mellitu
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.73
- MetaLR 0.76
- MetaSVM 0.59
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic (Hyperproinsulinemia)
- EBI: Pathogenic (in HPRI)
- UniProt: Pathogenic (in HPRI)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: A novel point mutation in the insulin gene giving rise to hyperproinsulinemia. (PMID 9141561)