G1133C (p.Gly1133Cys) variant of ABCC6 (O95255)
G1133C (p.Gly1133Cys) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G1133C (p.Gly1133Cys) variant details
- p.Gly1133Cys
- rs63749807
- ClinGen CA278631529
- ClinVar RCV000499302
- gnomAD rs63749807
- Likely pathogenic
- Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.97
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive inherited pseudoxanthoma elasticum)
- EBI: Likely pathogenic (in PXE)
- UniProt: Likely pathogenic (in PXE)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)