R1352H (p.Arg1352His) variant of ABCC8 (Q09428)
R1352H (p.Arg1352His) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Diabetes mellitus, transient neonatal, 2; Diabetes mellitus, permanent neonatal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R1352H (p.Arg1352His) variant details
- p.Arg1352His
- rs28936370
- ClinGen CA120108
- cosmic curated COSV56854
- ClinVar RCV000009666
- Conflicting interpretations
- Diabetes mellitus, transient neonatal, 2; Diabetes mellitus, permanent neonatal
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.93
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Diabetes mellitus, transient neonatal, 2; Diabetes mellitus, per)
- EBI: Pathogenic (in LIH)
- UniProt: Pathogenic (in LIH)
- Most common in the Non-Finnish European population (allele frequency 1.4e-05)
- Structural context available
- Cited in: Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor. (PMID 15356046)
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)