E5V (p.Glu5Val) variant of PRKG1 (cGMP-dependent protein kinase 1)
E5V (p.Glu5Val) 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.
E5V (p.Glu5Val) variant details
- p.Glu5Val
- ExAC rs749057103
- TOPMed rs749057103
- gnomAD rs749057103
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- MetaLR 0.19
- MetaSVM -0.77
- CADD 23.80
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available