E3Q (p.Glu3Gln) variant of PRKG1 (cGMP-dependent protein kinase 1)
E3Q (p.Glu3Gln) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
E3Q (p.Glu3Gln) variant details
- p.Glu3Gln
- gnomAD rs1234312117
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- MetaLR 0.16
- MetaSVM -0.96
- CADD 23.70
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available