E125* (p.Glu125Ter) variant of ABCC6 (O95255)
E125* (p.Glu125Ter) in ABCC6 (O95255) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in PXE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
E125* (p.Glu125Ter) variant details
- p.Glu125Ter
- rs879956688
- ClinGen CA394893344
- ClinVar RCV000499167
- gnomAD rs879956688
- Likely pathogenic
- in PXE
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.745
- CADD 36.00
- EBI: Likely pathogenic (in PXE)
- UniProt: Likely pathogenic (in PXE)
- Most common in the South Asian population (allele frequency 0.00023)
- Structural context available
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)