S51L (p.Ser51Leu) variant of PRKG1 (cGMP-dependent protein kinase 1)
S51L (p.Ser51Leu) 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 record also includes variant effect predictions and structural context.
S51L (p.Ser51Leu) variant details
- p.Ser51Leu
- cosmic curated COSV64867
- Uncertain significance
- Aortic aneurysm, familial thoracic 8
- Missense
- MetaLR 0.45
- MetaSVM -0.04
- SIFT 0.00
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 8)
- UniProt: Uncertain significance
- Structural context available