S131P (p.Ser131Pro) variant of GCK (Hexokinase-4)
S131P (p.Ser131Pro) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Permanent neonatal diabetes mellitus 1; not provided; Maturity-onset diabetes of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
S131P (p.Ser131Pro) variant details
- p.Ser131Pro
- rs104894010
- ClinGen CA126213
- ClinVar RCV000017518
- ClinVar RCV002513078
- Likely pathogenic
- Permanent neonatal diabetes mellitus 1; not provided; Maturity-onset diabetes of
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.93
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.08
- ClinVar: Likely pathogenic (Permanent neonatal diabetes mellitus 1; not provided; Maturity-o)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Structure/function studies of human beta-cell glucokinase. Enzymatic properties of a sequence polymorphism, mutations… (PMID 8325892)
- Cited in: Identification of glucokinase mutations in subjects with gestational diabetes mellitus. (PMID 8495817)