G663C (p.Gly663Cys) variant of ABCC6 (O95255)
G663C (p.Gly663Cys) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive inherited pseudoxanthoma elasticum. 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.
G663C (p.Gly663Cys) variant details
- p.Gly663Cys
- rs72653780
- ClinGen CA7926063
- NCI-TCGA Cosmic COSV5274
- ClinVar RCV000499137
- Pathogenic
- Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- REVEL 0.95
- AlphaMissense 0.96
- MetaLR 1.00
- MetaSVM 0.90
- CADD 29.50
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Autosomal recessive inherited pseudoxanthoma elasticum)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available
- Cited in: Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by… (PMID 17617515)
- Cited in: Structural analysis reveals pathomechanisms associated with pseudoxanthoma elasticum-causing mutations in the ABCC6… (PMID 30154241)