R1379C (p.Arg1379Cys) variant of ABCC8 (Q09428)
R1379C (p.Arg1379Cys) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Monogenic diabetes; not provided; Permanent neonatal diabetes mellitus. 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.
R1379C (p.Arg1379Cys) variant details
- p.Arg1379Cys
- rs137852673
- ClinGen CA120112
- NCI-TCGA Cosmic COSV5685
- cosmic curated COSV56856
- Pathogenic/Likely pathogenic
- Monogenic diabetes; not provided; Permanent neonatal diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Monogenic diabetes; not provided; Permanent neonatal diabetes me)
- EBI: Pathogenic (in TNDM2)
- UniProt: Pathogenic (in TNDM2)
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. (PMID 16885549)
- Cited in: Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes… (PMID 18025464)