K29* (p.Lys29Ter) variant of PRKG1 (cGMP-dependent protein kinase 1)
K29* (p.Lys29Ter) in PRKG1 (cGMP-dependent protein kinase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
K29* (p.Lys29Ter) variant details
- p.Lys29Ter
- gnomAD 10-50991463-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.71
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available