I54F (p.Ile54Phe) variant of PRKG1 (cGMP-dependent protein kinase 1)
I54F (p.Ile54Phe) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
I54F (p.Ile54Phe) variant details
- p.Ile54Phe
- ExAC rs778832051
- TOPMed rs778832051
- gnomAD rs778832051
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- MetaLR 0.17
- MetaSVM -0.65
- CADD 23.90
- SIFT 0.64
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available