G1296D (p.Gly1296Asp) variant of ABCC6 (O95255)
G1296D (p.Gly1296Asp) 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; Arterial calcification, generalized, of infancy, 2; Autosomal rece. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G1296D (p.Gly1296Asp) variant details
- p.Gly1296Asp
- rs374086268
- ClinGen CA7925379
- ClinVar RCV001951205
- ClinVar RCV002484801
- Pathogenic/Likely pathogenic
- not provided; Arterial calcification, generalized, of infancy, 2; Autosomal rece
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.91
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Arterial calcification, generalized, of infancy, 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: Generalized Arterial Calcification of Infancy. (PMID 25392903)
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)