R18M (p.Arg18Met) variant of PRKG1 (cGMP-dependent protein kinase 1)
R18M (p.Arg18Met) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R18M (p.Arg18Met) variant details
- p.Arg18Met
- gnomAD 10-50991431-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- MetaLR 0.41
- MetaSVM -0.24
- CADD 26.10
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available