F8C (p.Phe8Cys) variant of PRKG1 (cGMP-dependent protein kinase 1)
F8C (p.Phe8Cys) in PRKG1 (cGMP-dependent protein kinase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
F8C (p.Phe8Cys) variant details
- p.Phe8Cys
- rs1842780542
- gnomAD 10-50991399-CTT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.85
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available