R419W (p.Arg419Trp) variant of ABCC6 (O95255)
R419W (p.Arg419Trp) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R419W (p.Arg419Trp) variant details
- p.Arg419Trp
- rs775853778
- ClinGen CA7926391
- ClinVar RCV001378597
- ClinVar RCV002510593
- Pathogenic/Likely pathogenic
- Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.73
- CADD 23.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxa)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00016)
- Structural context available
- Cited in: Generalized Arterial Calcification of Infancy. (PMID 25392903)
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)