R1114C (p.Arg1114Cys) variant of ABCC6 (O95255)
R1114C (p.Arg1114Cys) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R1114C (p.Arg1114Cys) variant details
- p.Arg1114Cys
- rs63749794
- ClinGen CA7925604
- ClinVar RCV000499109
- ClinVar RCV001857045
- Pathogenic/Likely pathogenic
- Arterial calcification, generalized, of infancy, 2; Autosomal recessive inherite
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.91
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely 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 1KG:STU population (allele frequency 0.0051)
- Structural context available
- Cited in: ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE). (PMID 15459974)
- Cited in: Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. (PMID 16086317)