R1339H (p.Arg1339His) variant of ABCC6 (O95255)
R1339H (p.Arg1339His) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxant. 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.
R1339H (p.Arg1339His) variant details
- p.Arg1339His
- rs63750622
- ClinGen CA7925347
- ClinVar RCV000255253
- ClinVar RCV000499080
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxant
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.83
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive inherited pseudoxanthoma elast)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by… (PMID 17617515)
- Cited in: Generalized Arterial Calcification of Infancy. (PMID 25392903)