S398R (p.Ser398Arg) variant of ABCC6 (O95255)
S398R (p.Ser398Arg) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S398R (p.Ser398Arg) variant details
- p.Ser398Arg
- rs376518465
- ESP rs376518465
- ExAC rs376518465
- TOPMed rs376518465
- Likely pathogenic
- Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.63
- CADD 11.00
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Likely pathogenic (Autosomal recessive inherited pseudoxanthoma elasticum)
- EBI: Likely pathogenic (in PXE)
- UniProt: Likely pathogenic (in PXE)
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)