I54I (p.Ile54Ile) variant of PRKG1 (cGMP-dependent protein kinase 1)
I54I (p.Ile54Ile) in PRKG1 (cGMP-dependent protein kinase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
I54I (p.Ile54Ile) variant details
- p.Ile54Ile
- gnomAD 10-50991540-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.667
- CADD 13.60
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available