S398G (p.Ser398Gly) variant of ABCC6 (O95255)
S398G (p.Ser398Gly) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S398G (p.Ser398Gly) variant details
- p.Ser398Gly
- rs72653764
- ClinGen CA278664274
- ClinVar RCV000499314
- UniProt VAR 067852
- Pathogenic
- Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.77
- CADD 24.20
- PolyPhen-2 0.81
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal recessive inherited pseudoxanthoma elasticum)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. (PMID 16086317)
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)