E28Q (p.Glu28Gln) variant of PRKG1 (cGMP-dependent protein kinase 1)
E28Q (p.Glu28Gln) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E28Q (p.Glu28Gln) variant details
- p.Glu28Gln
- TOPMed rs1242528708
- gnomAD rs1242528708
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- MetaLR 0.16
- MetaSVM -1.02
- CADD 22.80
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available