R760Q (p.Arg760Gln) variant of ABCC6 (O95255)
R760Q (p.Arg760Gln) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive inherited pseudoxanthoma elasticum; Arterial calcification. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R760Q (p.Arg760Gln) variant details
- p.Arg760Gln
- rs769405586
- ClinGen CA7925964
- ClinVar RCV000499052
- ClinVar RCV001857054
- Pathogenic/Likely pathogenic
- Autosomal recessive inherited pseudoxanthoma elasticum; Arterial calcification
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.93
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive inherited pseudoxanthoma elasticum; Arterial)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Generalized Arterial Calcification of Infancy. (PMID 25392903)
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)