M13I (p.Met13Ile) variant of PRKG1 (cGMP-dependent protein kinase 1)
M13I (p.Met13Ile) 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; not provided; Familial thoracic aortic ane. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
M13I (p.Met13Ile) variant details
- p.Met13Ile
- rs202017913
- ClinGen CA346591
- ClinVar RCV000157424
- ClinVar RCV001803098
- Likely benign
- Aortic aneurysm, familial thoracic 8; not provided; Familial thoracic aortic ane
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- MetaLR 0.15
- MetaSVM -0.99
- CADD 22.90
- SIFT 0.04
- ClinVar: Likely benign (Aortic aneurysm, familial thoracic 8; not provided; Familial tho)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)