R1314W (p.Arg1314Trp) variant of ABCC6 (O95255)
R1314W (p.Arg1314Trp) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R1314W (p.Arg1314Trp) variant details
- p.Arg1314Trp
- rs63750759
- ClinGen CA129117
- cosmic curated COSV52742
- ClinVar RCV000006942
- Pathogenic
- Arterial calcification, generalized, of infancy, 2; Autosomal recessive inherite
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.91
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Arterial calcification, generalized, of infancy, 2; Autosomal re)
- EBI: Pathogenic (in GACI2 and PXE)
- UniProt: Pathogenic (in GACI2 and PXE)
- Most common in the HGDP:MBUTI population (allele frequency 0.042)
- Structural context available
- Cited in: Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. (PMID 10835642)
- Cited in: A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. (PMID 11536079)