G1354R (p.Gly1354Arg) variant of ABCC6 (O95255)
G1354R (p.Gly1354Arg) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G1354R (p.Gly1354Arg) variant details
- p.Gly1354Arg
- rs63750018
- ClinGen CA278676822
- ClinVar RCV000499341
- UniProt VAR 013392
- Pathogenic
- Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.94
- AlphaMissense 0.45
- MetaLR 0.87
- MetaSVM 0.95
- CADD 26.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Autosomal recessive inherited pseudoxanthoma elasticum)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma… (PMID 11702217)
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)