V46R (p.Val46Arg) variant of PRKG1 (cGMP-dependent protein kinase 1)
V46R (p.Val46Arg) in PRKG1 (cGMP-dependent protein kinase 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
V46R (p.Val46Arg) variant details
- p.Val46Arg
- gnomAD 10-50991511-T-TCG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.668
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available