I33T (p.Ile33Thr) variant of PRKG1 (cGMP-dependent protein kinase 1)
I33T (p.Ile33Thr) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili. The record also includes variant effect predictions and structural context.
I33T (p.Ile33Thr) variant details
- p.Ile33Thr
- gnomAD rs1237616278
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Aortic aneurysm, famili
- Missense
- MetaLR 0.18
- MetaSVM -0.90
- SIFT 0.26
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Aortic)
- UniProt: Uncertain significance
- Structural context available