R18G (p.Arg18Gly) variant of PRKG1 (cGMP-dependent protein kinase 1)
R18G (p.Arg18Gly) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R18G (p.Arg18Gly) variant details
- p.Arg18Gly
- rs752092723
- gnomAD 10-51074603-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.13
- MetaLR 0.24
- MetaSVM -0.73
- CADD 23.40
- PolyPhen-2 0.30
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available