G1302R (p.Gly1302Arg) variant of ABCC6 (O95255)
G1302R (p.Gly1302Arg) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Pseudoxanthoma elasticum, forme fruste; Autosomal recessive inherited pseudoxant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G1302R (p.Gly1302Arg) variant details
- p.Gly1302Arg
- rs63749856
- ClinGen CA281583
- ClinVar RCV000006957
- ClinVar RCV000255838
- Pathogenic/Likely pathogenic
- Pseudoxanthoma elasticum, forme fruste; Autosomal recessive inherited pseudoxant
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.93
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Pseudoxanthoma elasticum, forme fruste; Autosomal recessive inhe)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Population evidence available
- Structural context available
- Cited in: A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. (PMID 11536079)
- Cited in: Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6). (PMID 11880368)