R74Q (p.Arg74Gln) variant of ABCC8 (Q09428)
R74Q (p.Arg74Gln) 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; Familial hyperinsulinism; Hereditary hyperinsulinism. 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.
R74Q (p.Arg74Gln) variant details
- p.Arg74Gln
- rs72559734
- ClinGen CA5903946
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10021
- Pathogenic/Likely pathogenic
- not provided; Familial hyperinsulinism; Hereditary hyperinsulinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.90
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Familial hyperinsulinism; Hereditary hyperinsulini)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Cited in: Genetic heterogeneity in familial hyperinsulinism. (PMID 9618169)
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)