E16G (p.Glu16Gly) variant of PRKG1 (cGMP-dependent protein kinase 1)
E16G (p.Glu16Gly) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E16G (p.Glu16Gly) variant details
- p.Glu16Gly
- gnomAD 10-50991425-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- MetaLR 0.20
- MetaSVM -0.69
- CADD 25.80
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available