Q444H (p.Gln444His) variant of ABCC8 (Q09428)
Q444H (p.Gln444His) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary hyperinsulinism; Leucine-induced hypoglycemia; Hyperinsulinemic hypog. 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.
Q444H (p.Gln444His) variant details
- p.Gln444His
- rs760062120
- ClinGen CA379768482
- cosmic curated COSV10440
- ClinVar RCV001383753
- Pathogenic/Likely pathogenic
- Hereditary hyperinsulinism; Leucine-induced hypoglycemia; Hyperinsulinemic hypog
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- REVEL 0.94
- CADD 35.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary hyperinsulinism; Leucine-induced hypoglycemia; Hyperi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)