R807Q (p.Arg807Gln) variant of ABCC6 (O95255)
R807Q (p.Arg807Gln) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R807Q (p.Arg807Gln) variant details
- p.Arg807Gln
- rs72653794
- ClinGen CA7925918
- NCI-TCGA Cosmic COSV5274
- ClinVar RCV000418691
- Pathogenic/Likely pathogenic
- Arterial calcification, generalized, of infancy, 2; Autosomal recessive inherite
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.88
- CADD 31.00
- PolyPhen-2 0.92
- 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 REMAINING population (allele frequency 5e-05)
- 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)