R419Q (p.Arg419Gln) variant of ABCC6 (O95255)
R419Q (p.Arg419Gln) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R419Q (p.Arg419Gln) variant details
- p.Arg419Gln
- rs772434460
- ClinGen CA7926390
- cosmic curated COSV10874
- ClinVar RCV000492873
- Pathogenic/Likely pathogenic
- Arterial calcification, generalized, of infancy, 2; Autosomal recessive inherite
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.80
- CADD 23.80
- PolyPhen-2 0.74
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Arterial calcification, generalized, of infancy, 2; Autosomal re)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available
- Cited in: Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations. (PMID 25615550)
- Cited in: Generalized Arterial Calcification of Infancy. (PMID 25392903)