E3D (p.Glu3Asp) variant of PRKG1 (cGMP-dependent protein kinase 1)
E3D (p.Glu3Asp) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E3D (p.Glu3Asp) variant details
- p.Glu3Asp
- gnomAD 10-50991387-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- MetaLR 0.11
- MetaSVM -1.02
- CADD 20.90
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available