R1393L (p.Arg1393Leu) variant of ABCC8 (Q09428)
R1393L (p.Arg1393Leu) 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 0.85 / 1. The record also includes population frequency data and structural context.
R1393L (p.Arg1393Leu) variant details
- p.Arg1393Leu
- rs769279368
- ClinGen CA379787897
- ClinVar RCV003037372
- ClinVar RCV005608854
- Pathogenic/Likely pathogenic
- not provided; Hereditary hyperinsulinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.87
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary hyperinsulinism)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available