H56R (p.His56Arg) variant of ABCC6 (O95255)
H56R (p.His56Arg) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Pseudoxanthoma elasticum, forme fruste; Arterial calcif. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
H56R (p.His56Arg) variant details
- p.His56Arg
- rs367832780
- ClinGen CA7926702
- ClinVar RCV002983618
- ClinVar RCV005021743
- Uncertain significance
- Inborn genetic diseases; Pseudoxanthoma elasticum, forme fruste; Arterial calcif
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.09
- CADD 15.00
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Pseudoxanthoma elasticum, forme fruste;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0035)
- Structural context available
- Cited in: Generalized Arterial Calcification of Infancy. (PMID 25392903)
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)