Q44R (p.Gln44Arg) variant of PRKG1 (cGMP-dependent protein kinase 1)
Q44R (p.Gln44Arg) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Q44R (p.Gln44Arg) variant details
- p.Gln44Arg
- rs751572252
- ClinGen CA5503002
- ClinVar RCV004515229
- ExAC rs751572252
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- MetaLR 0.16
- MetaSVM -0.98
- CADD 22.90
- SIFT 1.00
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)