R1339C (p.Arg1339Cys) variant of ABCC6 (O95255)
R1339C (p.Arg1339Cys) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Autosomal recessive inherited pseudoxanthoma elasticum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R1339C (p.Arg1339Cys) variant details
- p.Arg1339Cys
- rs28939702
- ClinGen CA281577
- cosmic curated COSV10456
- ClinVar RCV000006954
- Pathogenic
- not provided; Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.76
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Autosomal recessive inherited pseudoxanthoma elast)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available
- Cited in: Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum. (PMID 10954200)
- Cited in: A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. (PMID 11536079)