R18S (p.Arg18Ser) variant of PRKG1 (cGMP-dependent protein kinase 1)
R18S (p.Arg18Ser) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R18S (p.Arg18Ser) variant details
- p.Arg18Ser
- gnomAD 10-50991432-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- MetaLR 0.38
- MetaSVM -0.38
- CADD 23.20
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available