E125K (p.Glu125Lys) variant of ABCC6 (O95255)
E125K (p.Glu125Lys) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arterial calcification, generalized, of infancy, 2; Autosomal recessive inherite. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
E125K (p.Glu125Lys) variant details
- p.Glu125Lys
- rs879956688
- ClinGen CA278671493
- ClinVar RCV000499366
- ClinVar RCV002475990
- Uncertain significance
- Arterial calcification, generalized, of infancy, 2; Autosomal recessive inherite
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.43
- CADD 25.20
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Uncertain significance (Arterial calcification, generalized, of infancy, 2; Autosomal re)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the REMAINING population (allele frequency 0.00049)
- Structural context available
- Cited in: Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. (PMID 16086317)
- Cited in: Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations. (PMID 25615550)