D7E (p.Asp7Glu) variant of PRKG1 (cGMP-dependent protein kinase 1)
D7E (p.Asp7Glu) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
D7E (p.Asp7Glu) variant details
- p.Asp7Glu
- gnomAD 10-50991399-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- MetaLR 0.12
- MetaSVM -0.95
- CADD 19.70
- SIFT 0.55
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available