G36E (p.Gly36Glu) variant of ABCC6 (O95255)
G36E (p.Gly36Glu) 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 0.43 / 1. The record also includes population frequency data and structural context.
G36E (p.Gly36Glu) variant details
- p.Gly36Glu
- ExAC rs777330921
- TOPMed rs777330921
- gnomAD rs777330921
- Uncertain significance
- Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.20
- CADD 22.50
- PolyPhen-2 0.18
- SIFT 0.02
- ClinVar: Uncertain significance (Pseudoxanthoma elasticum, forme fruste; Arterial calcification,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00024)
- Structural context available