G1405S (p.Gly1405Ser) variant of ABCC6 (O95255)
G1405S (p.Gly1405Ser) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G1405S (p.Gly1405Ser) variant details
- p.Gly1405Ser
- rs947230593
- ClinGen CA278675411
- ClinVar RCV000499309
- Ensembl rs947230593
- Pathogenic
- Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.98
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal recessive inherited pseudoxanthoma elasticum)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)