I54T (p.Ile54Thr) variant of PRKG1 (cGMP-dependent protein kinase 1)
I54T (p.Ile54Thr) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
I54T (p.Ile54Thr) variant details
- p.Ile54Thr
- gnomAD 10-50991539-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- MetaLR 0.12
- MetaSVM -0.90
- CADD 22.30
- SIFT 0.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available