C43C (p.Cys43Cys) variant of PRKG1 (cGMP-dependent protein kinase 1)
C43C (p.Cys43Cys) in PRKG1 (cGMP-dependent protein kinase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
C43C (p.Cys43Cys) variant details
- p.Cys43Cys
- rs1209644631
- gnomAD 10-50991507-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 14.40
- Population evidence available
- Structural context available
- Literature evidence available