L1459R (p.Leu1459Arg) variant of ABCC8 (Q09428)
L1459R (p.Leu1459Arg) 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; Hyperinsulinemic hypoglycemia, familia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
L1459R (p.Leu1459Arg) variant details
- p.Leu1459Arg
- rs971604271
- ClinGen CA218407548
- ClinVar RCV000503846
- ClinVar RCV001280724
- Pathogenic/Likely pathogenic
- not provided; Hereditary hyperinsulinism; Hyperinsulinemic hypoglycemia, familia
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.97
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary hyperinsulinism; Hyperinsulinemic hypog)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)