R807W (p.Arg807Trp) variant of ABCC6 (O95255)
R807W (p.Arg807Trp) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R807W (p.Arg807Trp) variant details
- p.Arg807Trp
- rs72653793
- ClinGen CA7925919
- ClinVar RCV000499031
- ClinVar RCV001851390
- Likely pathogenic
- Arterial calcification, generalized, of infancy, 2; Autosomal recessive inherite
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.92
- AlphaMissense 0.74
- MetaLR 0.71
- MetaSVM 0.49
- CADD 33.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Arterial calcification, generalized, of infancy, 2; Autosomal re)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. (PMID 16086317)
- Cited in: Generalized Arterial Calcification of Infancy. (PMID 25392903)