R518Q (p.Arg518Gln) variant of ABCC6 (O95255)
R518Q (p.Arg518Gln) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ABCC6-related disorder; Autosomal recessive inherited pseudoxanthoma elasticum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R518Q (p.Arg518Gln) variant details
- p.Arg518Gln
- rs72653772
- ClinGen CA7926272
- ClinVar RCV000255202
- ClinVar RCV000499158
- Pathogenic/Likely pathogenic
- ABCC6-related disorder; Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.89
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (ABCC6-related disorder; Autosomal recessive inherited pseudoxant)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the Middle Eastern population (allele frequency 0.00069)
- Structural context available
- Cited in: A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. (PMID 11536079)
- Cited in: Novel ABCC6 mutations in pseudoxanthoma elasticum. (PMID 15086542)