R18K (p.Arg18Lys) variant of PRKG1 (cGMP-dependent protein kinase 1)
R18K (p.Arg18Lys) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R18K (p.Arg18Lys) variant details
- p.Arg18Lys
- gnomAD 10-50991431-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- MetaLR 0.31
- MetaSVM -0.61
- CADD 23.80
- SIFT 0.87
- Population evidence available
- Structural context available
- Literature evidence available