R1379S (p.Arg1379Ser) variant of ABCC8 (Q09428)
R1379S (p.Arg1379Ser) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Monogenic diabetes; Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic h. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R1379S (p.Arg1379Ser) variant details
- p.Arg1379Ser
- rs137852673
- ClinGen CA213454
- ClinVar RCV000029261
- ClinVar RCV000675131
- Uncertain significance
- Monogenic diabetes; Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic h
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.97
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Monogenic diabetes; Diabetes mellitus, transient neonatal, 2; Hy)
- EBI: Pathogenic (in MODY12)
- UniProt: Pathogenic (in MODY12)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)