D7G (p.Asp7Gly) variant of PRKG1 (cGMP-dependent protein kinase 1)
D7G (p.Asp7Gly) 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.
D7G (p.Asp7Gly) variant details
- p.Asp7Gly
- gnomAD 10-50991398-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- MetaLR 0.22
- MetaSVM -0.66
- CADD 23.70
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available