G1378S (p.Gly1378Ser) variant of ABCC8 (Q09428)
G1378S (p.Gly1378Ser) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hereditary hyperinsulinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G1378S (p.Gly1378Ser) variant details
- p.Gly1378Ser
- rs925231098
- ClinGen CA218408260
- ClinVar RCV001817632
- UniProt VAR 072946
- Pathogenic/Likely pathogenic
- not provided; Hereditary hyperinsulinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.94
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.90
- CADD 27.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary hyperinsulinism)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Population evidence available
- Structural context available
- Cited in: Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism. (PMID 24814349)
- Cited in: Clinical features of 52 neonates with hyperinsulinism. (PMID 10202168)