I11T (p.Ile11Thr) variant of PRKG1 (cGMP-dependent protein kinase 1)
I11T (p.Ile11Thr) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
I11T (p.Ile11Thr) variant details
- p.Ile11Thr
- ExAC rs745772695
- gnomAD rs745772695
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- MetaLR 0.19
- MetaSVM -0.87
- CADD 22.70
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available