G226R (p.Gly226Arg) variant of ABCC6 (O95255)
G226R (p.Gly226Arg) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive inherited pseudoxanthoma elasticum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
G226R (p.Gly226Arg) variant details
- p.Gly226Arg
- rs72653755
- ClinGen CA278668692
- ClinVar RCV000499280
- Ensembl rs72653755
- Likely pathogenic
- Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- AlphaMissense 0.83
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Likely pathogenic (Autosomal recessive inherited pseudoxanthoma elasticum)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)