R600C (p.Arg600Cys) variant of ABCC6 (O95255)
R600C (p.Arg600Cys) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Arterial calcification, generalized, of infancy, 2; Autosomal rece. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R600C (p.Arg600Cys) variant details
- p.Arg600Cys
- rs72653777
- ClinGen CA7926154
- ClinVar RCV000499295
- ClinVar RCV001851389
- Pathogenic/Likely pathogenic
- not provided; Arterial calcification, generalized, of infancy, 2; Autosomal rece
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.96
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Arterial calcification, generalized, of infancy, 2)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE). (PMID 15459974)
- Cited in: Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by… (PMID 17617515)