G32S (p.Gly32Ser) variant of INS (Insulin)
G32S (p.Gly32Ser) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G32S (p.Gly32Ser) variant details
- p.Gly32Ser
- rs80356664
- ClinGen CA214067
- ClinVar RCV000020212
- ClinVar RCV000030072
- Pathogenic/Likely pathogenic
- Diabetes mellitus, permanent neonatal 4; not provided; Neonatal diabetes mellitu
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.96
- MetaLR 0.97
- MetaSVM 1.09
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Diabetes mellitus, permanent neonatal 4; not provided; Neonatal)
- EBI: Pathogenic (in PNDM4)
- UniProt: Pathogenic (in PNDM4)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)