G129E (p.Gly129Glu) variant of ABCC6 (O95255)
G129E (p.Gly129Glu) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
G129E (p.Gly129Glu) variant details
- p.Gly129Glu
- rs72653753
- ClinGen CA278671489
- ClinVar RCV000499249
- ClinVar RCV005641650
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.65
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the REMAINING population (allele frequency 7.1e-05)
- Structural context available
- Cited in: Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. (PMID 16086317)
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)