R64Q (p.Arg64Gln) variant of ABCC6 (O95255)
R64Q (p.Arg64Gln) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R64Q (p.Arg64Gln) variant details
- p.Arg64Gln
- rs777566074
- ClinGen CA7926690
- cosmic curated COSV52745
- ClinVar RCV000499118
- Uncertain significance
- Arterial calcification, generalized, of infancy, 2; Autosomal recessive inherite
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.06
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Uncertain significance (Arterial calcification, generalized, of infancy, 2; Autosomal re)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00052)
- 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)