Q1406H (p.Gln1406His) variant of ABCC6 (O95255)
Q1406H (p.Gln1406His) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
Q1406H (p.Gln1406His) variant details
- p.Gln1406His
- rs149510465
- ClinGen CA7925252
- ClinVar RCV001881357
- ClinVar RCV005016743
- Conflicting interpretations
- Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.88
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxa)
- EBI: Likely pathogenic (in PXE)
- UniProt: Likely pathogenic (in PXE)
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Generalized Arterial Calcification of Infancy. (PMID 25392903)
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)