R25L (p.Arg25Leu) variant of PRKG1 (cGMP-dependent protein kinase 1)
R25L (p.Arg25Leu) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R25L (p.Arg25Leu) variant details
- p.Arg25Leu
- TOPMed rs1480756312
- gnomAD rs1480756312
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- MetaLR 0.17
- MetaSVM -0.86
- CADD 23.60
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available