G12R (p.Gly12Arg) variant of ABCC6 (O95255)
G12R (p.Gly12Arg) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- gnomAD rs1012801593
- Uncertain significance
- Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.03
- CADD 9.69
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (Pseudoxanthoma elasticum, forme fruste; Arterial calcification,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available