E17G (p.Glu17Gly) variant of PRKG1 (cGMP-dependent protein kinase 1)
E17G (p.Glu17Gly) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E17G (p.Glu17Gly) variant details
- p.Glu17Gly
- ExAC rs765486540
- gnomAD rs765486540
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- MetaLR 0.33
- MetaSVM -0.44
- CADD 26.00
- SIFT 0.24
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available