N188S (p.Asn188Ser) variant of ABCC8 (Q09428)
N188S (p.Asn188Ser) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Diabetes mellitus, transient neonatal, 2; Type 2 diabetes mellitus; Hyperinsulin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
N188S (p.Asn188Ser) variant details
- p.Asn188Ser
- rs797045213
- ClinGen CA276976
- ClinVar RCV000192482
- ClinVar RCV000517846
- Pathogenic/Likely pathogenic
- Diabetes mellitus, transient neonatal, 2; Type 2 diabetes mellitus; Hyperinsulin
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.53
- CADD 24.30
- PolyPhen-2 0.21
- SIFT 0.07
- ClinVar: Pathogenic/Likely pathogenic (Diabetes mellitus, transient neonatal, 2; Type 2 diabetes mellit)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine… (PMID 15562009)
- Cited in: Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI). (PMID 16429405)