E17K (p.Glu17Lys) variant of PRKG1 (cGMP-dependent protein kinase 1)
E17K (p.Glu17Lys) 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 Aortic aneurysm, familial thoracic 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
E17K (p.Glu17Lys) variant details
- p.Glu17Lys
- cosmic curated COSV10529
- gnomAD rs1295204783
- Uncertain significance
- Aortic aneurysm, familial thoracic 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- MetaLR 0.35
- MetaSVM -0.51
- CADD 24.30
- SIFT 0.61
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 8)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available