W218C (p.Trp218Cys) variant of ABCC6 (O95255)
W218C (p.Trp218Cys) 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 0.93 / 1. The record also includes published literature and structural context.
W218C (p.Trp218Cys) variant details
- p.Trp218Cys
- rs72653754
- ClinGen CA278669355
- ClinVar RCV000499170
- Ensembl rs72653754
- Pathogenic
- Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- AlphaMissense 0.94
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic (Autosomal recessive inherited pseudoxanthoma elasticum)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)