G1501S (p.Gly1501Ser) variant of ABCC6 (O95255)
G1501S (p.Gly1501Ser) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive inherited pseudoxanthoma elasticum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
G1501S (p.Gly1501Ser) variant details
- p.Gly1501Ser
- rs63750874
- ClinGen CA278674989
- ClinVar RCV000499131
- ExAC rs63750874
- Likely pathogenic
- Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- AlphaMissense 0.10
- MetaLR 0.88
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.80
- ClinVar: Likely pathogenic (Autosomal recessive inherited pseudoxanthoma elasticum)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)