D1471N (p.Asp1471Asn) variant of ABCC8 (Q09428)
D1471N (p.Asp1471Asn) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
D1471N (p.Asp1471Asn) variant details
- p.Asp1471Asn
- rs72559716
- ClinGen CA274147
- ClinVar RCV000169299
- ClinVar RCV000586940
- Pathogenic
- Diabetes mellitus, transient neonatal, 2; Type 2 diabetes mellitus; Hyperinsulin
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.60
- CADD 35.00
- PolyPhen-2 0.27
- SIFT 0.02
- ClinVar: Pathogenic (Diabetes mellitus, transient neonatal, 2; Type 2 diabetes mellit)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the East Asian population (allele frequency 5.3e-05)
- Structural context available
- Cited in: Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine… (PMID 15562009)
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)