Q1406K (p.Gln1406Lys) variant of ABCC6 (O95255)
Q1406K (p.Gln1406Lys) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.80 / 1. The record also includes published literature and structural context.
Q1406K (p.Gln1406Lys) variant details
- p.Gln1406Lys
- rs387906859
- ClinGen CA129122
- ClinVar RCV000023277
- ClinVar RCV000023278
- Pathogenic
- Arterial calcification, generalized, of infancy, 2; Autosomal recessive inherite
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- AlphaMissense 0.35
- MetaLR 0.93
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (Arterial calcification, generalized, of infancy, 2; Autosomal re)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Structural context available
- Cited in: An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. (PMID 20034067)
- Cited in: Generalized Arterial Calcification of Infancy. (PMID 25392903)