R1138W (p.Arg1138Trp) variant of ABCC6 (O95255)
R1138W (p.Arg1138Trp) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Arterial calcification, generalized, of infancy, 2; Autosomal recessive inherite. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R1138W (p.Arg1138Trp) variant details
- p.Arg1138Trp
- rs28939701
- ClinGen CA281573
- ClinVar RCV000006949
- ClinVar RCV000255802
- Pathogenic/Likely pathogenic
- Arterial calcification, generalized, of infancy, 2; Autosomal recessive inherite
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.91
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Arterial calcification, generalized, of infancy, 2; Autosomal re)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. (PMID 10811882)
- Cited in: Molecular genetics of pseudoxanthoma elasticum. (PMID 11493310)