R1379L (p.Arg1379Leu) variant of ABCC8 (Q09428)
R1379L (p.Arg1379Leu) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neonatal diabetes mellitus; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
R1379L (p.Arg1379Leu) variant details
- p.Arg1379Leu
- rs193922401
- ClinGen CA213457
- ClinVar RCV000029262
- ClinVar RCV001818180
- Pathogenic/Likely pathogenic
- Neonatal diabetes mellitus; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.96
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Neonatal diabetes mellitus; not provided)
- EBI: Pathogenic (in MODY12)
- UniProt: Pathogenic (in MODY12)
- Population evidence available
- Structural context available