E21D (p.Glu21Asp) variant of PRKG1 (cGMP-dependent protein kinase 1)
E21D (p.Glu21Asp) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E21D (p.Glu21Asp) variant details
- p.Glu21Asp
- gnomAD 10-50991441-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- MetaLR 0.19
- MetaSVM -0.87
- CADD 22.30
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available