R1420H (p.Arg1420His) variant of ABCC8 (Q09428)
R1420H (p.Arg1420His) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Type 2 diabetes mellitus; not provided; Hereditary hyperinsulinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R1420H (p.Arg1420His) variant details
- p.Arg1420His
- rs1272388614
- ClinGen CA379786666
- ClinVar RCV003322256
- ClinVar RCV003466058
- Conflicting interpretations
- Type 2 diabetes mellitus; not provided; Hereditary hyperinsulinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.85
- CADD 29.20
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Type 2 diabetes mellitus; not provided; Hereditary hyperinsulini)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)