I54M (p.Ile54Met) variant of PRKG1 (cGMP-dependent protein kinase 1)
I54M (p.Ile54Met) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
I54M (p.Ile54Met) variant details
- p.Ile54Met
- TOPMed rs1187046446
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- MetaLR 0.11
- MetaSVM -0.96
- CADD 18.90
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available