R1538Q (p.Arg1538Gln) variant of ABCC8 (Q09428)
R1538Q (p.Arg1538Gln) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ABCC8-related disorder; not provided; Familial hyperinsulinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R1538Q (p.Arg1538Gln) variant details
- p.Arg1538Gln
- rs1564869850
- ClinGen CA379781519
- cosmic curated COSV56852
- ClinVar RCV000710393
- Pathogenic/Likely pathogenic
- ABCC8-related disorder; not provided; Familial hyperinsulinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.88
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (ABCC8-related disorder; not provided; Familial hyperinsulinism)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)