R177Q (p.Arg177Gln) variant of PRKG1 (cGMP-dependent protein kinase 1)
R177Q (p.Arg177Gln) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Aortic aneurysm, familial thoracic 8; not provided; Familial thoracic aortic ane. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R177Q (p.Arg177Gln) variant details
- p.Arg177Gln
- rs397515330
- ClinGen CA144806
- ClinVar RCV000055667
- ClinVar RCV000494178
- Pathogenic
- Aortic aneurysm, familial thoracic 8; not provided; Familial thoracic aortic ane
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Pathogenic (Aortic aneurysm, familial thoracic 8; not provided; Familial tho)
- EBI: Pathogenic (in AAT8)
- UniProt: Pathogenic (in AAT8)
- Population evidence available
- Structural context available
- Cited in: Familial thoracic aortic aneurysms and dissections: three families with early-onset ascending and descending aortic… (PMID 16646045)
- Cited in: Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. (PMID 23910461)