R1114H (p.Arg1114His) variant of ABCC6 (O95255)
R1114H (p.Arg1114His) 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; not provided; Autosomal rece. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R1114H (p.Arg1114His) variant details
- p.Arg1114His
- rs63750427
- ClinGen CA7925603
- ClinVar RCV000499040
- ClinVar RCV001865582
- Pathogenic/Likely pathogenic
- Arterial calcification, generalized, of infancy, 2; not provided; Autosomal rece
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.91
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Arterial calcification, generalized, of infancy, 2; not provided)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available
- Cited in: Generalized Arterial Calcification of Infancy. (PMID 25392903)
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)