A1457T (p.Ala1457Thr) variant of ABCC8 (Q09428)
A1457T (p.Ala1457Thr) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hyperinsulinemic hypoglycemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A1457T (p.Ala1457Thr) variant details
- p.Ala1457Thr
- rs72559717
- ClinGen CA218407557
- ClinVar RCV001376163
- ClinVar RCV001820080
- Pathogenic
- not provided; Hyperinsulinemic hypoglycemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.95
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Hyperinsulinemic hypoglycemia, familial, 1)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism. (PMID 12364426)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)