E30G (p.Glu30Gly) variant of PRKG1 (cGMP-dependent protein kinase 1)
E30G (p.Glu30Gly) 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 and structural context.
E30G (p.Glu30Gly) variant details
- p.Glu30Gly
- TOPMed rs1842781285
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- MetaLR 0.20
- MetaSVM -0.78
- CADD 24.30
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00021)
- Structural context available