R1164Q (p.Arg1164Gln) variant of ABCC6 (O95255)
R1164Q (p.Arg1164Gln) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R1164Q (p.Arg1164Gln) variant details
- p.Arg1164Gln
- rs63750457
- ClinGen CA7925569
- ClinVar RCV000413984
- ClinVar RCV000499335
- Pathogenic/Likely pathogenic
- Autosomal recessive inherited pseudoxanthoma elasticum; Arterial calcification
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.57
- CADD 20.10
- PolyPhen-2 0.15
- SIFT 0.28
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive inherited pseudoxanthoma elasticum; Arterial)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. (PMID 16086317)
- Cited in: Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by… (PMID 17617515)