G1299S (p.Gly1299Ser) variant of ABCC6 (O95255)
G1299S (p.Gly1299Ser) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive inherited pseudoxanthoma elasticum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G1299S (p.Gly1299Ser) variant details
- p.Gly1299Ser
- rs63750446
- ClinGen CA278625591
- ClinVar RCV000499145
- TOPMed rs63750446
- Pathogenic
- Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- REVEL 0.98
- AlphaMissense 0.90
- MetaLR 1.00
- MetaSVM 0.88
- CADD 26.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Autosomal recessive inherited pseudoxanthoma elasticum)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.4e-05)
- Structural context available
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)