G663S (p.Gly663Ser) variant of ABCC6 (O95255)
G663S (p.Gly663Ser) 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; Arterial calcification, generalized, of infancy, 2; Autosomal rece. 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.
G663S (p.Gly663Ser) variant details
- p.Gly663Ser
- rs72653780
- ClinGen CA7926064
- NCI-TCGA Cosmic COSV5274
- cosmic curated COSV52741
- Uncertain significance
- not provided; Arterial calcification, generalized, of infancy, 2; Autosomal rece
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- REVEL 0.94
- AlphaMissense 0.96
- MetaLR 1.00
- MetaSVM 0.90
- CADD 27.40
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided; Arterial calcification, generalized, of infancy, 2)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Generalized Arterial Calcification of Infancy. (PMID 25392903)
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)