R807G (p.Arg807Gly) variant of ABCC6 (O95255)
R807G (p.Arg807Gly) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive inherited pseudoxanthoma elasticum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
R807G (p.Arg807Gly) variant details
- p.Arg807Gly
- rs72653793
- ClinGen CA394887855
- ClinVar RCV000499030
- ExAC rs72653793
- Uncertain significance
- Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- AlphaMissense 0.74
- MetaLR 0.71
- MetaSVM 0.49
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Uncertain significance (Autosomal recessive inherited pseudoxanthoma elasticum)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Structural context available
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)