G40D (p.Gly40Asp) variant of KCNJ11 (Q14654)
G40D (p.Gly40Asp) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial hyperinsulinism; Diabetes mellitus, transient neonatal, 3; Type 2 diabe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G40D (p.Gly40Asp) variant details
- p.Gly40Asp
- rs1001873841
- ClinGen CA218400149
- ClinVar RCV002227198
- ClinVar RCV003558487
- Conflicting interpretations
- Familial hyperinsulinism; Diabetes mellitus, transient neonatal, 3; Type 2 diabe
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- REVEL 0.99
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Familial hyperinsulinism; Diabetes mellitus, transient neonatal,)
- EBI: Pathogenic (in HHF2)
- UniProt: Pathogenic (in HHF2)
- Most common in the Non-Finnish European population (allele frequency 2.6e-05)
- Structural context available
- Cited in: Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. (PMID 16357843)
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)