G755R (p.Gly755Arg) variant of ABCC6 (O95255)
G755R (p.Gly755Arg) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Arterial calcification, generalized, of infancy, 2; Autosomal recessive inherite. 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.
G755R (p.Gly755Arg) variant details
- p.Gly755Arg
- rs72653787
- ClinGen CA7925966
- cosmic curated COSV52744
- ClinVar RCV000499201
- Pathogenic/Likely pathogenic
- Arterial calcification, generalized, of infancy, 2; Autosomal recessive inherite
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.91
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Arterial calcification, generalized, of infancy, 2; Autosomal re)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the South Asian population (allele frequency 0.00021)
- 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)