H36R (p.His36Arg) variant of ABCC8 (Q09428)
H36R (p.His36Arg) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyperinsulinemic hypoglycemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
H36R (p.His36Arg) variant details
- p.His36Arg
- rs1468544724
- ClinGen CA379789969
- ClinVar RCV003322278
- gnomAD rs1468544724
- Uncertain significance
- Hyperinsulinemic hypoglycemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.86
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Hyperinsulinemic hypoglycemia, familial, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)