R1379H (p.Arg1379His) variant of ABCC8 (Q09428)
R1379H (p.Arg1379His) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Monogenic diabetes; ABCC8-related disorder; Maturity-onset diabetes of the young. 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.
R1379H (p.Arg1379His) variant details
- p.Arg1379His
- rs193922401
- ClinGen CA379788416
- ClinVar RCV000710386
- ClinVar RCV001249023
- Pathogenic/Likely pathogenic
- Monogenic diabetes; ABCC8-related disorder; Maturity-onset diabetes of the young
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Monogenic diabetes; ABCC8-related disorder; Maturity-onset diabe)
- EBI: Pathogenic (in MODY12)
- UniProt: Pathogenic (in MODY12)
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available
- Cited in: Heterozygous ABCC8 mutations are a cause of MODY. (PMID 21989597)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)