E5Q (p.Glu5Gln) variant of PRKG1 (cGMP-dependent protein kinase 1)
E5Q (p.Glu5Gln) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Aortic aneurysm, familial thoracic 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E5Q (p.Glu5Gln) variant details
- p.Glu5Gln
- rs200844105
- ClinGen CA5502988
- ClinVar RCV001285889
- ClinVar RCV003918820
- Likely benign
- Aortic aneurysm, familial thoracic 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- MetaLR 0.13
- MetaSVM -0.96
- CADD 23.00
- SIFT 0.38
- ClinVar: Likely benign (Aortic aneurysm, familial thoracic 8)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ACB population (allele frequency 0.011)
- Structural context available
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)